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Breast cancer screening needs assessment in 19 Northern California counties: geography, poverty, and racial/ethnic identity composition. Cancer Causes Control. 2024 Dec 01.
Bustamante BLM, Miglioretti D, Keegan T, Stewart E, Shrestha A, Yang NT, Cress RD, Carvajal-Carmona L, Dang J, Fejerman L. PMID: 39616300.
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PubMed Mentions: Fields:
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Development and Application of Genetic Ancestry Reconstruction Methods to Study Diversity of Patient-Derived Models in the NCI PDXNet Consortium. Cancer Res Commun. 2024 Aug 01; 4(8):2147-2152.
Lott PC, Chiu K, Quino JE, Vang AP, Lloyd MW, Srivastava A, Chuang JH, PDXNet Consortium, Carvajal-Carmona LG. PMID: 39056190; PMCID: PMC11328913.
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PubMed Mentions: Fields:
Translation:
HumansAnimals
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A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis. Cancer Res. 2024 07 02; 84(13):2060-2072.
White BS, Woo XY, Koc S, Sheridan T, Neuhauser SB, Wang S, Evrard YA, Chen L, Foroughi Pour A, Landua JD, Mashl RJ, Davies SR, Fang B, Raso MG, Evans KW, Bailey MH, Chen Y, Xiao M, Rubinstein JC, Sanderson BJ, Lloyd MW, Domanskyi S, Dobrolecki LE, Fujita M, Fujimoto J, Xiao G, Fields RC, Mudd JL, Xu X, Hollingshead MG, Jiwani S, Acevedo S, PDXNet Consortium, Davis-Dusenbery BN, Robinson PN, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Carvajal-Carmona LG, Welm AL, Welm BE, Govindan R, Li S, Davies MA, Roth JA, Meric-Bernstam F, Xie Y, Herlyn M, Ding L, Lewis MT, Bult CJ, Dean DA, Chuang JH. PMID: 39082680; PMCID: PMC11217732.
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PubMed Mentions:
1 Fields:
Translation:
HumansAnimals
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Assessment of Patient-Derived Xenograft Growth and Antitumor Activity: The NCI PDXNet Consensus Recommendations. Mol Cancer Ther. 2024 Jul 02; 23(7):924-938.
Meric-Bernstam F, Lloyd MW, Koc S, Evrard YA, McShane LM, Lewis MT, Evans KW, Li D, Rubinstein L, Welm A, Dean DA, Srivastava A, Grover JW, Ha MJ, Chen H, Huang X, Varadarajan K, Wang J, Roth JA, Welm B, Govinden R, Ding L, Kaochar S, Mitsiades N, Carvajal-Carmona L, Herylyn M, Davies MA, Shapiro GI, Fields R, Trevino JG, Harrell JC, NCI PDXNet Consortium, Doroshow JH, Chuang JH, Moscow JA. PMID: 38641411; PMCID: PMC11217730.
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PubMed Mentions:
1 Fields:
Translation:
HumansAnimals
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Promotores' perspectives on the virtual adaptation of a hereditary breast cancer education program. J Genet Couns. 2023 12; 32(6):1226-1231.
Perez F, Hernandez M, Martinez A, Castaneda P, Ponce R, Gonzalez M, Martinez C, Perez A, Quino JE, Robles Garibay E, Zavala VA, Huang X, Neuhausen SL, Ziv E, Carvajal-Carmona L, Duron Y, Fejerman L. PMID: 37747056; PMCID: PMC11634055.
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PubMed Mentions: Fields:
Translation:
HumansPHPublic Health
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Advancing gastric cancer precision medicine with novel genomic screens†. J Pathol. 2023 04; 259(4):359-361.
Halmai NB, Carvajal-Carmona LG. PMID: 36541926; PMCID: PMC9998346.
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PubMed Mentions: Fields:
Translation:
Humans
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Erratum: Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. Front Oncol. 2022; 12:1087022.
Tamayo LI, Perez F, Perez A, Hernandez M, Martinez A, Huang X, Zavala VA, Ziv E, Neuhausen SL, Carvajal-Carmona LG, Duron Y, Fejerman L. PMID: 36686761; PMCID: PMC9854391.
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PubMed Mentions:
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Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene. Br J Cancer. 2023 04; 128(6):1077-1085.
Cardoso M, Maia S, Brandão A, Sahasrabudhe R, Lott P, Belter N, Carvajal-Carmona LG, Paulo P, Teixeira MR. PMID: 36564567; PMCID: PMC10006409.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Multiregional Sequencing Analysis Reveals Extensive Genetic Heterogeneity in Gastric Tumors from Latinos. Cancer Res Commun. 2022 11; 2(11):1487-1496.
Toal TW, Estrada-Florez AP, Polanco-Echeverry GM, Sahasrabudhe RM, Lott PC, Suarez-Olaya JJ, Guevara-Tique AA, Rocha S, Morales-Arana A, Castro-Valencia F, Urayama S, Kirane A, Wei D, Rios-Sarabia N, Medrano R, Mantilla A, Echeverry de Polanco M, Torres J, Bohorquez-Lozano ME, Carvajal-Carmona LG. PMID: 36970058; PMCID: PMC10035402.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Neighborhood Factors Associated with COVID-19 Cases in California. J Racial Ethn Health Disparities. 2023 12; 10(6):2653-2662.
Oh DL, Meltzer D, Wang K, Canchola AJ, DeRouen MC, McDaniels-Davidson C, Gibbons J, Carvajal-Carmona L, Nodora JN, Hill L, Gomez SL, Martinez ME. PMID: 36376642; PMCID: PMC9662780.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California. Front Oncol. 2022; 12:940162.
Tamayo LI, Perez F, Perez A, Hernandez M, Martinez A, Huang X, Zavala VA, Ziv E, Neuhausen SL, Carvajal-Carmona LG, Duron Y, Fejerman L. PMID: 36387260; PMCID: PMC9643826.
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PubMed Mentions:
1
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Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma? Cancer Epidemiol Biomarkers Prev. 2022 09 02; 31(9):1863-1866.
Macauda A, Clay-Gilmour A, Hielscher T, Hildebrandt MAT, Kruszewski M, Orlowski RZ, Kumar SK, Ziv E, Orciuolo E, Brown EE, Försti A, Waller RG, Machiela MJ, Chanock SJ, Camp NJ, Rymko M, Razny M, Cozen W, Várkonyi J, Piredda C, Pelosini M, Belachew AA, Subocz E, Hemminki K, Rybicka-Ramos M, Giles GG, Milne RL, Hofmann JN, Zaucha JM, Vangsted AJ, Goldschmidt H, Rajkumar SV, Tomczak W, Sainz J, Butrym A, Watek M, Iskierka-Jazdzewska E, Buda G, Robinson DP, Jurczyszyn A, Dudzinski M, Martinez-Lopez J, Sinnwell JP, Slager SL, Jamroziak K, Reis RMV, Weinhold N, Bhatti P, Carvajal-Carmona LG, Zawirska D, Norman AD, Mazur G, Berndt SI, Campa D, Vachon CM, Canzian F. PMID: 35700034; PMCID: PMC11375313.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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A Cancer Health Needs Assessment Reveals Important Differences Between US-Born and Foreign-Born Latinos in California. Front Oncol. 2022; 12:883200.
Quino JE, Perez F, Perez A, Vang AP, Avendano L, Dang J, Chen MS, Arana AM, Rocha S, Nuno M, Lara PN, Fejerman L, Carvajal-Carmona LG. PMID: 35875145; PMCID: PMC9300947.
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PubMed Mentions:
2
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PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery. NAR Cancer. 2022 Jun; 4(2):zcac014.
Koc S, Lloyd MW, Grover JW, Xiao N, Seepo S, Subramanian SL, Ray M, Frech C, DiGiovanna J, Webster P, Neuhauser S, Srivastava A, Woo XY, Sanderson BJ, White B, Lott P, Dobrolecki LE, Dowst H, PDXNet Consortium , Evrard YA, Wallace TA, Moscow JA, Doroshow JH, Mitsiades N, Kaochar S, Pan CX, Chen MS, Carvajal-Carmona L, Welm AL, Welm BE, Lewis MT, Govindan R, Ding L, Li S, Herlyn M, Davies MA, Roth J, Meric-Bernstam F, Robinson PN, Bult CJ, Davis-Dusenbery B, Dean DA, Chuang JH. PMID: 35475145; PMCID: PMC9026194.
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PubMed Mentions:
7
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Diversifying preclinical research tools: expanding patient-derived models to address cancer health disparities. Trends Cancer. 2022 04; 8(4):291-294.
Halmai NB, Carvajal-Carmona LG. PMID: 35125330; PMCID: PMC11586084.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Population structure and relatedness estimates in a Mexican sample. Ann Hum Genet. 2021 11; 85(6):245-248.
Colistro V, Rojas-Martínez A, Carracedo A, CHIBCHA Consortium, Tomlinson I, Carvajal-Carmona L, Cruz R, Sans M. PMID: 33830497.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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The dual pandemic of COVID-19 and systemic inequities in US Latino communities. Cancer. 2021 05 15; 127(10):1548-1550.
Martínez ME, Nodora JN, Carvajal-Carmona LG. PMID: 33405237.
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PubMed Mentions:
15 Fields:
Translation:
HumansCellsPHPublic Health
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia. Breast Cancer Res. 2020 10 21; 22(1):108.
Tuazon AMA, Lott P, Bohórquez M, Benavides J, Ramirez C, Criollo A, Estrada-Florez A, Mateus G, Velez A, Carmona J, Olaya J, Garcia E, Polanco-Echeverry G, Stultz J, Alvarez C, Tapia T, Ashton-Prolla P, Brazilian Familial Cancer Network, Vega A, Lazaro C, Tornero E, Martinez-Bouzas C, Infante M, De La Hoya M, Diez O, Browning BL, COLUMBUS Consortium, Rannala B, Teixeira MR, Carvallo P, Echeverry M, Carvajal-Carmona LG. PMID: 33087180; PMCID: PMC7579869.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Cancer health disparities in racial/ethnic minorities in the United States. Br J Cancer. 2021 01; 124(2):315-332.
Zavala VA, Bracci PM, Carethers JM, Carvajal-Carmona L, Coggins NB, Cruz-Correa MR, Davis M, de Smith AJ, Dutil J, Figueiredo JC, Fox R, Graves KD, Gomez SL, Llera A, Neuhausen SL, Newman L, Nguyen T, Palmer JR, Palmer NR, Pérez-Stable EJ, Piawah S, Rodriquez EJ, Sanabria-Salas MC, Schmit SL, Serrano-Gomez SJ, Stern MC, Weitzel J, Yang JJ, Zabaleta J, Ziv E, Fejerman L. PMID: 32901135; PMCID: PMC7852513.
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PubMed Mentions:
331 Fields:
Translation:
Humans
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The Genetic Population Structure of Robinson Crusoe Island, Chile. Front Genet. 2020; 11:669.
Mountford HS, Villanueva P, Fernández MA, Jara L, De Barbieri Z, Carvajal-Carmona LG, Cazier JB, Newbury DF. PMID: 32676101; PMCID: PMC7333314.
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PubMed Mentions:
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A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women. J Natl Cancer Inst. 2020 06 01; 112(6):590-598.
Shieh Y, Fejerman L, Lott PC, Marker K, Sawyer SD, Hu D, Huntsman S, Torres J, Echeverry M, Bohórquez ME, Martínez-Chéquer JC, Polanco-Echeverry G, Estrada-Flórez AP, COLUMBUS Consortium, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Vidaurre T, Weitzel JN, Zambrano SC, Carvajal-Carmona LG, Ziv E, Neuhausen SL. PMID: 31553449; PMCID: PMC7301155.
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PubMed Mentions:
36 Fields:
Translation:
Humans
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Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women. Cancer Res. 2020 05 01; 80(9):1893-1901.
Marker KM, Zavala VA, Vidaurre T, Lott PC, Vásquez JN, Casavilca-Zambrano S, Calderón M, Abugattas JE, Gómez HL, Fuentes HA, Picoaga RL, Cotrina JM, Neciosup SP, Castañeda CA, Morante Z, Valencia F, Torres J, Echeverry M, Bohórquez ME, Polanco-Echeverry G, Estrada-Florez AP, Serrano-Gómez SJ, Carmona-Valencia JA, Alvarado-Cabrero I, Sanabria-Salas MC, Velez A, Donado J, Song S, Cherry D, Tamayo LI, Huntsman S, Hu D, Ruiz-Cordero R, Balassanian R, Ziv E, Zabaleta J, Carvajal-Carmona L, Fejerman L, COLUMBUS Consortium. PMID: 32245796; PMCID: PMC7202960.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry. Endocr Connect. 2019 Sep; 8(9):1310-1317.
Estrada-Flórez AP, Bohórquez ME, Vélez A, Duque CS, Donado JH, Mateus G, Panqueba-Tarazona C, Polanco-Echeverry G, Sahasrabudhe R, Echeverry M, Carvajal-Carmona LG. PMID: 31454788; PMCID: PMC6765322.
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PubMed Mentions:
8
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Editorial: Accomplishments, Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition. Front Oncol. 2019; 9:841.
Peterlongo P, Carvajal-Carmona LG. PMID: 31555594; PMCID: PMC6722187.
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PubMed Mentions:
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Racial/ethnic differences in survival among gastric cancer patients in california. Cancer Causes Control. 2019 Jul; 30(7):687-696.
Klapheke AK, Carvajal-Carmona LG, Cress RD. PMID: 31102083; PMCID: PMC7172226.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas. Breast Cancer Res. 2019 01 14; 21(1):3.
Hoffman J, Fejerman L, Hu D, Huntsman S, Li M, John EM, Torres-Mejia G, Kushi L, Ding YC, Weitzel J, Neuhausen SL, Lott P, COLUMBUS Consortium, Echeverry M, Carvajal-Carmona L, Burchard E, Eng C, Long J, Zheng W, Olopade O, Huo D, Haiman C, Ziv E. PMID: 30642363; PMCID: PMC6332913.
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PubMed Mentions:
22 Fields:
Translation:
HumansCells
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Neuropathological Diagnoses of Demented Hispanic, Black, and Non-Hispanic White Decedents Seen at an Alzheimer's Disease Center. J Alzheimers Dis. 2019; 68(1):145-158.
Filshtein TJ, Dugger BN, Jin LW, Olichney JM, Farias ST, Carvajal-Carmona L, Lott P, Mungas D, Reed B, Beckett LA, DeCarli C. PMID: 30775996; PMCID: PMC7286069.
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PubMed Mentions:
50 Fields:
Translation:
Humans
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Resolving gastric cancer aetiology: an update in genetic predisposition. Lancet Gastroenterol Hepatol. 2018 12; 3(12):874-883.
Lott PC, Carvajal-Carmona LG. PMID: 30507471; PMCID: PMC6500447.
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PubMed Mentions:
46 Fields:
Translation:
HumansCells
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Moving the needle on colorectal cancer genetics: it takes more than two to TANGO. Br J Cancer. 2018 10; 119(8):913-914.
Carvajal-Carmona LG. PMID: 30283142; PMCID: PMC6203804.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Progress and future challenges in aging and diversity research in the United States. Alzheimers Dement. 2019 07; 15(7):995-1003.
Brewster P, Barnes L, Haan M, Johnson JK, Manly JJ, Nápoles AM, Whitmer RA, Whitmer RA, Carvajal-Carmona L, Early D, Farias S, Mayeda ER, Melrose R, Meyer OL, Zeki Al Hazzouri A, Hinton L, Mungas D. PMID: 30240574; PMCID: PMC7021489.
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PubMed Mentions:
54 Fields:
Translation:
Humans
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Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies. Forensic Sci Int Genet. 2018 09; 36:e1-e7.
Criollo-Rayo AA, Bohórquez M, Prieto R, Howarth K, Culma C, Carracedo A, Tomlinson I, Echeverry de Polnaco MM, Carvajal Carmona LG, CHIBCHA Consortium. PMID: 29909140.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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PALB2 as a familial gastric cancer gene: is the wait over? Lancet Gastroenterol Hepatol. 2018 07; 3(7):451-452.
Carvajal-Carmona LG. PMID: 29706559; PMCID: PMC6474236.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Author Correction: Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. Sci Rep. 2018 Apr 12; 8(1):6140.
Coggins NB, Stultz J, O'Geen H, Carvajal-Carmona LG, Segal DJ. PMID: 29643450; PMCID: PMC5895592.
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PubMed Mentions: Fields:
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Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. Sci Rep. 2017 11 08; 7(1):15044.
Coggins NB, Stultz J, O'Geen H, Carvajal-Carmona LG, Segal DJ. PMID: 29118424; PMCID: PMC5678142.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. Oncotarget. 2017 Sep 26; 8(43):74233-74243.
Alvarez C, Tapia T, Perez-Moreno E, Gajardo-Meneses P, Ruiz C, Rios M, Missarelli C, Silva M, Cruz A, Matamala L, Carvajal-Carmona L, Camus M, Carvallo P. PMID: 29088781; PMCID: PMC5650336.
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PubMed Mentions:
22 Fields:
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Pathology and Molecular Pathology of Uterine and Ovarian Cancers. . 2017 Jan 1; 247-278.
Huang HE, Kindelberger KD, Carvajal-Carmona CL. .
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Publisher Site Mentions:
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Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. Gastroenterology. 2017 04; 152(5):983-986.e6.
Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY, Latin American Gastric Cancer Genetics Collaborative Group, Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona LG. PMID: 28024868; PMCID: PMC5367981.
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PubMed Mentions:
69 Fields:
Translation:
HumansCells
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Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia. Medicine (Baltimore). 2016 Oct; 95(40):e4883.
Bohorquez M, Sahasrabudhe R, Criollo A, Sanabria-Salas MC, Vélez A, Castro JM, Marquez JR, Mateus G, Bolaños F, Panqueva C, Restrepo JI, Puerta JD, Murillo R, Bravo MM, Hernández G, Rios A, Prieto R, Tomlinson I, Echeverry M, Carvajal-Carmona LG. PMID: 27749544; PMCID: PMC5059046.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk. Medicine (Baltimore). 2016 Aug; 95(32):e4148.
Estrada-Florez AP, Bohórquez ME, Sahasrabudhe R, Prieto R, Lott P, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona LG. PMID: 27512836; PMCID: PMC4985291.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer. J Natl Cancer Inst. 2016 08; 108(8).
Carvajal-Carmona LG, Tomlinson I, Sahasrabudhe R. PMID: 27154966; PMCID: PMC5017950.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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The Hunting of the Snark: Whither Genome-Wide Association Studies for Colorectal Cancer? Gastroenterology. 2016 06; 150(7):1528-1530.
Carvajal Carmona LG, Tomlinson I. PMID: 27133396.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics. Endocr Connect. 2016 May; 5(3):123-7.
Bohórquez ME, Estrada AP, Stultz J, Sahasrabudhe R, Williamson J, Lott P, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona LG. PMID: 27097599; PMCID: PMC5002962.
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PubMed Mentions:
8
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The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer. J Clin Endocrinol Metab. 2016 03 01; 10(3):1098-1103.
Sahasrabudhe R, Stultz J, Williamson J, Lott P, Estrada A, Bohorquez M, Palles C, Polanco-Echeverry G, Jaeger E, Martin L, Magdalena Echeverry M, Tomlinson I, Carvajal-Carmona LG, TCUKIN. PMID: 26691890; PMCID: PMC4803181.
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PubMed Mentions:
19 Fields:
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Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Sci Rep. 2015 12 01; 5:17369.
Cheng TH, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, Palles C, Jones A, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Giles GG, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Goode EL, Winham SJ, Lambrechts D, Fasching P, Burwinkel B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Darabi H, Li J, Liu T, Lindblom A, Hall P, de Polanco ME, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguiar Jnr S, Teixeira MR, Dunning AM, Dennis J, Otton G, Proietto T, Holliday E, Attia J, Ashton K, Scott RJ, McEvoy M, Dowdy SC, Fridley BL, Werner HM, Trovik J, Njolstad TS, Tham E, Mints M, Runnebaum I, Hillemanns P, Dörk T, Amant F, Schrauwen S, Hein A, Beckmann MW, Ekici A, Czene K, Meindl A, Bolla MK, Michailidou K, Tyrer JP, Wang Q, Ahmed S, Healey CS, Shah M, Annibali D, Depreeuw J, Al-Tassan NA, Harris R, Meyer BF, Whiffin N, Hosking FJ, Kinnersley B, Farrington SM, Timofeeva M, Tenesa A, Campbell H, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I. PMID: 26621817; PMCID: PMC4664893.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocr Relat Cancer. 2016 Feb; 23(2):77-91.
Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM, Australian National Endometrial Cancer Study Group (ANECS), Gorman M, Martin L, Hodgson S, National Study of Endometrial Cancer Genetics Group (NSECG), Michailidou K, Tyrer JP, Maranian MJ, Hall P, Czene K, Darabi H, Li J, Fasching PA, Hein A, Beckmann MW, Ekici AB, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Zhao H, Depreeuw J, Schrauwen S, Amant F, Goode EL, Fridley BL, Dowdy SC, Winham SJ, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M, for RENDOCAS, Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N, AOCS Group, Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB. PMID: 26574572; PMCID: PMC4697192.
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PubMed Mentions:
38 Fields:
Translation:
Humans
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Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Int J Epidemiol. 2016 Feb; 45(1):186-205.
Montazeri Z, Theodoratou E, Nyiraneza C, Timofeeva M, Chen W, Svinti V, Sivakumaran S, Gresham G, Cubitt L, Carvajal-Carmona L, Bertagnolli MM, Zauber AG, Tomlinson I, Farrington SM, Dunlop MG, Campbell H, Little J. PMID: 26451011; PMCID: PMC5860727.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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The 8q24 rs6983267G variant is associated with increased thyroid cancer risk. Endocr Relat Cancer. 2015 Oct; 22(5):841-9.
Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A, Neta G, Takahasi M, Saenko V, Mitsutake N, JTCMS Consortium, Jaeguer E, Duque CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I, CORGI Consortium, TCUKIN Consortiums, Carmona LG. PMID: 26290501; PMCID: PMC4558310.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. PLoS Genet. 2015 Jun; 11(6):e1005336.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Magdalena Echeverry M, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER, SLI Consortium, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. PMID: 26114769; PMCID: PMC4483266.
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PubMed Mentions:
3 Fields:
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Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development. J Pathol. 2015 Jun; 236(2):155-64.
Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. PMID: 25712196; PMCID: PMC6681464.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. PLoS Genet. 2015 Mar; 11(3):e1004925.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER, SLI Consortium, Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. PMID: 25781923; PMCID: PMC4363375.
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PubMed Mentions:
26 Fields:
Translation:
Humans
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Hum Genet. 2015 Feb; 134(2):231-45.
Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Pooley K, Beesley J, Cheng T, Jones A, Howarth K, Martin L, Gorman M, Hodgson S, National Study of Endometrial Cancer Genetics Group (NSECG), Australian National Endometrial Cancer Study Group (ANECS), Wentzensen N, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Scott RJ, Ashton K, Proietto T, Otton G, Wersäll O, Mints M, Tham E, RENDOCAS, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC, Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H, GENICA Network, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. PMID: 25487306; PMCID: PMC4291520.
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PubMed Mentions:
22 Fields:
Translation:
HumansCellsCTClinical Trials
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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Hum Mol Genet. 2015 Mar 01; 24(5):1478-92.
Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S, National Study of Endometrial Cancer Genetics Group (NSECG), CHIBCHA Consortium, De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB, Australian National Endometrial Cancer Study Group (ANECS), Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E, RENDOCAS, Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC, Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H, GENICA Network, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, French JD, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB. PMID: 25378557; PMCID: PMC4321445.
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PubMed Mentions:
31 Fields:
Translation:
HumansCells
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Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nat Commun. 2014 Oct 20; 5:5260.
Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman KB, Caswell JL, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona L, Echeverry MM, Tuazon AM, Ramirez C, COLUMBUS Consortium, Gignoux CR, Eng C, Gonzalez-Burchard E, Henderson B, Le Marchand L, Kooperberg C, Hou L, Agalliu I, Kraft P, Lindström S, Perez-Stable EJ, Haiman CA, Ziv E. PMID: 25327703; PMCID: PMC4204111.
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PubMed Mentions:
84 Fields:
Translation:
HumansCells
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Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clin Cancer Res. 2013 Dec 01; 19(23):6430-7.
Wang J, Carvajal-Carmona LG, Chu JH, Zauber AG, APC Trial Collaborators, Kubo M, Matsuda K, Dunlop M, Houlston RS, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Ratain MJ, Nakamura Y, Weiss ST, Tomlinson I, Bertagnolli MM. PMID: 24084763; PMCID: PMC4037290.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics. 2013 Jan 26; 14:55.
Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X, EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. PMID: 23350875; PMCID: PMC3616862.
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PubMed Mentions:
26 Fields:
Translation:
HumansCells
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013 Feb; 45(2):136-44.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Guarino Almeida E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, CORGI Consortium, WGS500 Consortium, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. PMID: 23263490; PMCID: PMC3785128.
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PubMed Mentions:
521 Fields:
Translation:
HumansAnimalsCells
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BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis. 2013 Feb; 34(2):314-8.
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez LA, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, EPICOLON Consortium, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. PMID: 23161572.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology. 2013 Jan; 144(1):53-5.
Carvajal-Carmona LG, Zauber AG, Jones AM, Howarth K, Wang J, Cheng T, APC Trial Collaborators, APPROVe Trial Collaborators, CORGI Study Collaborators, Colon Cancer Family Registry Collaborators, CGEMS Collaborators, Riddell R, Lanas A, Morton D, Bertagnolli MM, Tomlinson I. PMID: 22999960; PMCID: PMC3572711.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet. 2012 May 27; 44(7):770-6.
Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Cazier JB, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona LG, Ballereau S, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E, Colorectal Tumour Gene Identification (CORGI) Consortium, Starr JM, Deary I, Kirac I, Kovacevic D, Aaltonen LA, Renkonen-Sinisalo L, Mecklin JP, Matsuda K, Nakamura Y, Okada Y, Gallinger S, Duggan DJ, Conti D, Newcomb P, Hopper J, Jenkins MA, Schumacher F, Casey G, Easton D, Shah M, Pharoah P, Lindblom A, Liu T, Swedish Low-Risk Colorectal Cancer Study Group, Smith CG, West H, Cheadle JP, COIN Collaborative Group, Midgley R, Kerr DJ, Campbell H, Tomlinson IP, Houlston RS. PMID: 22634755; PMCID: PMC4747430.
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PubMed Mentions:
148 Fields:
Translation:
Humans
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Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut. 2013 Jun; 62(6):871-81.
Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Koessler T, Pharoah P, Schafmayer C, Hampe J, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, von Holst S, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abulí A, Bessa X, Ruiz-Ponte C, Castellví-Bel S, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbell H, Tomlinson I, Houlston RS. PMID: 22490517; PMCID: PMC5105590.
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PubMed Mentions:
80 Fields:
Translation:
Humans
-
Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24. J Med Genet. 2012 Mar; 49(3):158-63.
Jones AM, Howarth KM, Martin L, Gorman M, Mihai R, Moss L, Auton A, Lemon C, Mehanna H, Mohan H, Clarke SE, Wadsley J, Macias E, Coatesworth A, Beasley M, Roques T, Martin C, Ryan P, Gerrard G, Power D, Bremmer C, TCUKIN Consortium, Tomlinson I, Carvajal-Carmona LG. PMID: 22282540; PMCID: PMC3286794.
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PubMed Mentions:
63 Fields:
Translation:
HumansCells
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Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet. 2012 Feb 15; 21(4):934-46.
Spain SL, Carvajal-Carmona LG, Howarth KM, Jones AM, Su Z, Cazier JB, Williams J, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Casey G, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Morreau H, van Wezel T, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IP. PMID: 22076443; PMCID: PMC3263985.
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PubMed Mentions:
14 Fields:
Translation:
HumansCells
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Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer. 2011 Aug 05; 11:339.
Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. PMID: 21819567; PMCID: PMC3176240.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. Br J Cancer. 2011 Sep 06; 105(6):870-5.
Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella A, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. PMID: 21811255; PMCID: PMC3171011.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres. Gut. 2012 Feb; 61(2):248-54.
Jones AM, Beggs AD, Carvajal-Carmona L, Farrington S, Tenesa A, Walker M, Howarth K, Ballereau S, Hodgson SV, Zauber A, Bertagnolli M, Midgley R, Campbell H, Kerr D, Dunlop MG, Tomlinson IP. PMID: 21708826; PMCID: PMC3245900.
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PubMed Mentions:
69 Fields:
Translation:
HumansCells
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Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet. 2011 Jun; 7(6):e1002105.
Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG. PMID: 21655089; PMCID: PMC3107194.
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PubMed Mentions:
137 Fields:
Translation:
HumansCells
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Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. Hum Mol Genet. 2011 Jul 15; 20(14):2879-88.
Carvajal-Carmona LG, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J, Theodoratou E, Barnetson R, Conti D, Newcomb P, Hopper JL, Jenkins MA, Gallinger S, Duggan DJ, Campbell H, Kerr D, Casey G, Houlston R, Dunlop M, Tomlinson I. PMID: 21531788; PMCID: PMC3118761.
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PubMed Mentions:
47 Fields:
Translation:
HumansCells
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Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med. 2011 Feb; 13(2):155-60.
Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S. PMID: 21233718.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Replication study of SNP associations for colorectal cancer in Hong Kong Chinese. Br J Cancer. 2011 Jan 18; 104(2):369-75.
Ho JW, Choi SC, Lee YF, Hui TC, Cherny SS, Garcia-Barceló MM, Carvajal-Carmona L, Liu R, To SH, Yau TK, Chung CC, Yau CC, Hui SM, Lau PY, Yuen CH, Wong YW, Ho S, Fung SS, Tomlinson IP, Houlston RS, Cheng KK, Sham PC. PMID: 21179028; PMCID: PMC3031883.
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PubMed Mentions:
36 Fields:
Translation:
Humans
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Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer. Gastroenterology. 2010 Dec; 139(6):2221-4.
Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, Schackert HK, Görgens H, Hahn MM, Kamping EJ, Vreede L, Hoenselaar E, van der Looij E, Goossens M, Churchman M, Carvajal-Carmona L, Tomlinson IP, de Bruijn DR, Van Kessel AG, Kuiper RP. PMID: 21036128.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet. 2010 Nov; 42(11):973-7.
Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S, COGENT Consortium, Thomas HJ, Lucassen AM, Evans DG, Maher ER, CORGI Consortium, COIN Collaborative Group, COINB Collaborative Group, Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona LG, Campbell H, Dunlop MG, Tomlinson IP. PMID: 20972440; PMCID: PMC5098601.
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PubMed Mentions:
233 Fields:
Translation:
HumansCells
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Challenges in the identification and use of rare disease-associated predisposition variants. Curr Opin Genet Dev. 2010 Jun; 20(3):277-81.
Carvajal-Carmona LG. PMID: 20564784.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS One. 2010 May 28; 5(5):e10858.
Elliott KS, Zeggini E, McCarthy MI, Gudmundsson J, Sulem P, Stacey SN, Thorlacius S, Amundadottir L, Grönberg H, Xu J, Gaborieau V, Eeles RA, Neal DE, Donovan JL, Hamdy FC, Muir K, Hwang SJ, Spitz MR, Zanke B, Carvajal-Carmona L, Brown KM, Australian Melanoma Family Study Investigators, Hayward NK, Macgregor S, Tomlinson IP, Lemire M, Amos CI, Murabito JM, Isaacs WB, Easton DF, Brennan P, PanScan Consortium, Barkardottir RB, Gudbjartsson DF, Rafnar T, Hunter DJ, Chanock SJ, Stefansson K, Ioannidis JP. PMID: 20526366; PMCID: PMC2878330.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Curr Opin Genet Dev. 2010 Jun; 20(3):308-14.
Carvajal-Carmona LG. PMID: 20456939.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition. Proc Natl Acad Sci U S A. 2010 Apr 27; 107(17):7858-62.
Carvajal-Carmona LG, Churchman M, Bonilla C, Walther A, Lefèvre JH, Kerr D, Dunlop M, Houlston R, Bodmer WF, Tomlinson I. PMID: 20368424; PMCID: PMC2867909.
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PubMed Mentions:
21 Fields:
Translation:
HumansCells
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COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. Br J Cancer. 2010 Jan 19; 102(2):447-54.
Tomlinson IP, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, Koessler T, Pharoah PD, Niittymäki I, Niittymäkix I, Tuupanen S, Tuupanenx S, Aaltonen LA, Hemminki K, Lindblom A, Försti A, Sieber O, Lipton L, van Wezel T, Morreau H, Wijnen JT, Devilee P, Matsuda K, Nakamura Y, Castellví-Bel S, Ruiz-Ponte C, Castells A, Carracedo A, Ho JW, Sham P, Hofstra RM, Vodicka P, Brenner H, Hampe J, Schafmayer C, Tepel J, Schreiber S, Völzke H, Lerch MM, Schmidt CA, Buch S, Moreno V, Villanueva CM, Peterlongo P, Radice P, Echeverry MM, Velez A, Carvajal-Carmona L, Scott R, Penegar S, Broderick P, Tenesa A, Houlston RS. PMID: 19920828; PMCID: PMC2816642.
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PubMed Mentions:
29 Fields:
Translation:
Humans
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Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res. 2009 Sep 15; 69(18):7422-9.
Spain SL, Cazier JB, CORGI Consortium, , Houlston R, Carvajal-Carmona L, Tomlinson I. PMID: 19723657.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet. 2009 Aug; 41(8):885-90.
Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Björklund M, Wei G, Yan J, Niittymäki I, Mecklin JP, Järvinen H, Ristimäki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA. PMID: 19561604.
View in:
PubMed Mentions:
267 Fields:
Translation:
HumansAnimalsCells
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Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Hum Mol Genet. 2009 May 15; 18(10):1889-92.
Carvajal-Carmona LG, Spain S, CORGI Consortium, Kerr D, Houlston R, Cazier JB, Tomlinson I. PMID: 19264763.
View in:
PubMed Mentions:
21 Fields:
Translation:
Humans
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Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. Clin Genet. 2009 Mar; 75(3):304-6.
Vélez A, Gaitan MH, Marquez JR, Castaño A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona LG. PMID: 19250387.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet. 2008 Dec; 40(12):1426-35.
COGENT Study, Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S, Colorectal Cancer Association Study Consortium, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS, CoRGI Consortium, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. PMID: 19011631; PMCID: PMC2836775.
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PubMed Mentions:
296 Fields:
Translation:
Humans
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Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet. 2008 Dec 01; 17(23):3720-7.
Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR, CORGI Consortium, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS. PMID: 18753146.
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PubMed Mentions:
32 Fields:
Translation:
HumansCells
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Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet. 2008 Dec; 16(12):1477-86.
Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I, CORGI Consortium. PMID: 18628789.
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17 Fields:
Translation:
HumansCells
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008 May; 40(5):631-7.
Tenesa A, Farrington SM, Prendergast JG, Porteous ME, Walker M, Haq N, Barnetson RA, Theodoratou E, Cetnarskyj R, Cartwright N, Semple C, Clark AJ, Reid FJ, Smith LA, Kavoussanakis K, Koessler T, Pharoah PD, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Schmidt CO, Hampe J, Chang-Claude J, Hoffmeister M, Brenner H, Wilkening S, Canzian F, Capella G, Moreno V, Deary IJ, Starr JM, Tomlinson IP, Kemp Z, Howarth K, Carvajal-Carmona L, Webb E, Broderick P, Vijayakrishnan J, Houlston RS, Rennert G, Ballinger D, Rozek L, Gruber SB, Matsuda K, Kidokoro T, Nakamura Y, Zanke BW, Greenwood CM, Rangrej J, Kustra R, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG. PMID: 18372901; PMCID: PMC2778004.
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PubMed Mentions:
319 Fields:
Translation:
HumansCells
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A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet. 2008 May; 40(5):623-30.
Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG, CORGI Consortium, Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS. PMID: 18372905.
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PubMed Mentions:
307 Fields:
Translation:
HumansCells
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Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet. 2008 Jan; 40(1):26-8.
Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P, Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W, Papaemmanuil E, Penegar S, Qureshi M, CORGI Consortium, Farrington S, Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R, Tomlinson I. PMID: 18084292.
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PubMed Mentions:
155 Fields:
Translation:
HumansCells
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A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet. 2007 Nov; 39(11):1315-7.
Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, CORGI Consortium, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. PMID: 17934461.
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PubMed Mentions:
274 Fields:
Translation:
Humans
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Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol. 2007 Aug; 212(4):378-85.
Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP. PMID: 17503413.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet. 2007 Aug; 39(8):984-8.
Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K, CORGI Consortium, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R. PMID: 17618284.
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PubMed Mentions:
431 Fields:
Translation:
HumansCells
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A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene? J Gastroenterol Hepatol. 2007 Dec; 22(12):2292-7.
Chow E, Lipton L, Carvajal-Carmona LG, Arthur G, Bhathal P, Kaur G, Jaeger E, Woodford-Richens K, Howarth K, Tomlinson I, Macrae F. PMID: 17573831.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan. Human Molecular Genetics. 2006 Dec 15; 15(24):3592-3592.
Kemp KZ, Carvajal-Carmona CL, Spain SS, Barclay BE, Gorman GM, Martin ML, Jaeger JE, Brooks BN, Bishop BD, Thomas TH, Tomlinson TI, Papaemmanuil PE, Webb WE, Sellick SG, Wood WW, Evans EG, Lucassen LA, Maher ME, Houlston HR. .
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Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology. 2007 Feb; 132(2):527-30.
Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I. PMID: 17258725.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34. Hum Mol Genet. 2006 Nov 01; 15(21):3146-53.
Herzberg I, Jasinska A, García J, Jawaheer D, Service S, Kremeyer B, Duque C, Parra MV, Vega J, Ortiz D, Carvajal L, Polanco G, Restrepo GJ, López C, Palacio C, Levinson M, Aldana I, Mathews C, Davanzo P, Molina J, Fournier E, Bejarano J, Ramírez M, Ortiz CA, Araya X, Sabatti C, Reus V, Macaya G, Bedoya G, Ospina J, Freimer N, Ruiz-Linares A. PMID: 16984960.
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PubMed Mentions:
20 Fields:
Translation:
HumansCells
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Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Hum Mol Genet. 2006 Oct 01; 15(19):2903-10.
Kemp Z, Carvajal-Carmona L, Spain S, Barclay E, Gorman M, Martin L, Jaeger E, Brooks N, Bishop DT, Thomas H, Tomlinson I, Papaemmanuil E, Webb E, Sellick GS, Wood W, Evans G, Lucassen A, Maher ER, Houlston RS, ColoRectal tumour Gene Identification (CoRGI) Study Consortium. PMID: 16923799.
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PubMed Mentions:
33 Fields:
Translation:
HumansCells
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Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab. 2006 Aug; 91(8):3071-5.
Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP. PMID: 16757530.
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PubMed Mentions:
37 Fields:
Translation:
HumansCells
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EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. BMC Cancer. 2006 Jun 01; 6:145.
Kokko A, Laiho P, Lehtonen R, Korja S, Carvajal-Carmona LG, Järvinen H, Mecklin JP, Eng C, Schleutker J, Tomlinson IP, Vahteristo P, Aaltonen LA. PMID: 16740153; PMCID: PMC1513590.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res. 2006 May 15; 66(10):5003-6.
Kemp ZE, Carvajal-Carmona LG, Barclay E, Gorman M, Martin L, Wood W, Rowan A, Donohue C, Spain S, Jaeger E, Evans DG, Maher ER, Bishop T, Thomas H, Houlston R, Tomlinson I, Colorectal Tumour Gene Identification Study Consortium. PMID: 16707420.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate. Proc Natl Acad Sci U S A. 2006 May 09; 103(19):7234-9.
Bedoya G, Montoya P, García J, Soto I, Bourgeois S, Carvajal L, Labuda D, Alvarez V, Ospina J, Hedrick PW, Ruiz-Linares A. PMID: 16648268; PMCID: PMC1464326.
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PubMed Mentions:
80 Fields:
Translation:
HumansCells
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Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene. 2005 May 19; 24(22):3678-83.
Suraweera N, Meijne E, Moody J, Carvajal-Carmona LG, Yoshida K, Pollard P, Fitzgibbon J, Riches A, van Laar T, Huiskamp R, Rowan A, Tomlinson IP, Silver A. PMID: 15750630.
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PubMed Mentions:
28 Fields:
Translation:
HumansAnimalsCells
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Abundant mtDNA diversity and ancestral admixture in Colombian criollo cattle (Bos taurus). Genetics. 2003 Nov; 165(3):1457-63.
Carvajal-Carmona LG, Bermudez N, Olivera-Angel M, Estrada L, Ossa J, Bedoya G, Ruiz-Linares A. PMID: 14668394; PMCID: PMC1462844.
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PubMed Mentions:
4 Fields:
Translation:
AnimalsCells
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Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Hum Genet. 2003 May; 112(5-6):534-41.
Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, Ospina J, Bedoya G, Freimer N, Ruiz-Linares A. PMID: 12601469.
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PubMed Mentions:
55 Fields:
Translation:
Humans
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A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. Neurosci Lett. 2001 Feb 02; 298(2):87-90.
Pineda-Trujillo N, Carvajal-Carmona LG, Buriticá O, Moreno S, Uribe C, Pineda D, Toro M, García F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A. PMID: 11163284.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia. Neurosci Lett. 2000 Oct 13; 292(3):199-202.
Ospina-Duque J, Duque C, Carvajal-Carmona L, Ortiz-Barrientos D, Soto I, Pineda N, Cuartas M, Calle J, Lopez C, Ochoa L, Garcia J, Gomez J, Agudelo A, Lozano M, Montoya G, Ospina A, Lopez M, Gallo A, Miranda A, Serna L, Montoya P, Palacio C, Bedoya G, McCarthy M, Reus V, Freimer N, Ruiz-Linares A. PMID: 11018311.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet. 2000 Nov; 67(5):1287-95.
Carvajal-Carmona LG, Soto ID, Pineda N, Ortíz-Barrientos D, Duque C, Ospina-Duque J, McCarthy M, Montoya P, Alvarez VM, Bedoya G, Ruiz-Linares A. PMID: 11032790; PMCID: PMC1288568.
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PubMed Mentions:
66 Fields:
Translation:
HumansCells