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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. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics 2015 Feb;134(2):231-45. doi: 10.1007/s00439-014-1515-4. Epub 2014 Dec 9.
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. Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nature Communications, 2014 Oct 20;5:5260. doi: 10.1038/ncomms6260
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. Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clinical Cancer Research, 013 Dec 1;19(23):6430-7. doi: 10.1158/1078-0432.CCR-13-0550. Epub 2013 Oct 1.
Carvajal-Carmona LG, Zauber AG, Jones AM, Howarth K, Wang J, Cheng T, APC Trail Collaborators, APPROVe Trail Collaborators, CORGI Study Collaborators, Colon Cancer Family Registry Collaborators, Riddell R, Lanas A, Morton D, Bertagnolli MM, Tomlinson IPM. Much of the population genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology, 2013, 144:53-55.
Palles, C., Cazier, J., Howarth, K.M., Domingo, E., Jones, A.M., Broderick, P., Kemp, Z., Spain, S., Almeida, E., Salguero, I., Sherborne, A., Chuub, D., Carvajal-Carmona, L.G., Ma, Y., Kaur, K., Dobbins, S., Barclay, E., Gorman, M., Martin, L., Kovac, M., Humphray, S., Lucassen, A., Holmes, C., Bentley, D., Donnelly, P., Taylor, J., Petridis, C., Roylance, R., Sawyer, E., Kerr, D., Clark, S., Grimes, J., Kearsey, S., Thomas, H., McVean, G., Houlston, R., and Tomlinson, I. (2013). Germline mutations in POLE and POLD1 affecting the proofreading domains predispose to colorectal adenomas and carcinomas. Nature Genetics. 2013, 45(2): 136-144. See also the News and Views: Seshagiri, S. The burden of faulty proofreading in colon cancer, Nature Genetics, 2013, 45:121-124
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 J-B, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona LG, Ballereau s, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E, Starr JM, Deary I, Kirac I, Kovacević D, Aaltonen LA, Renkonen-Sinisalo L, Mecklin j-P, 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, Smith CG, West H, Cheadle JP, Midgley R, Kerr DJ, Campbell H, Tomlinson IP, Houlston RS. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nature Genetics, 2012, 44: 770-776.
Jones AM, Howarth KM, Martin L, Gorman M, Mihai R, Moss L, Auton A, Lemon C, Mehanna H, Mohan H, Clarke SEM, Wadsley J, Macias E, Coatesworth A, Beasley M, Roques T, Martin C, Ryan P, Gerrard G, Power D, Bremmer C, The TCUKIN Consortium, Tomlinson I, Carvajal-Carmona LG‡. 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. Journal of Medical Genetics. 2012, 49:158-163.
Jones AM, Beggs AD, Carvajal-Carmona L, Walker M, Howarth K, Farrington S, Tenesa A, Ballereau S, Campbell H, Zauber A, Bertagnolli M, Kerr D, Hodgson SV, Dunlop M, Tomlinson I: TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres. Gut, 2012, 61:248-254.
Carvajal-Carmona LG‡, Cazier J-B, Jones A, 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, Zanke B, Duggan DJ, Kerr D, Campbell H, Casey G, Houlston R, Dunlop M, Tomlinson I. Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11 refines regional association signals and in silico analyses suggests functional variation and identifies unexpected candidate target genes. Human Molecular Genetics, 2011, 20 (14): 2879-2888.
Tomlinson IPM, Carvajal-Carmona LG*, Dobbins SE, Tenesa A, Jones A, Howarth K, Palles C, Broderick P, Jaeger EM, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Barnetson RA, Penegar S, Barclay E, Whiffin N, Martin L, Lloyd A, Gorman M, The COGENT Consortium, The CORGI collaborators, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier J-B, Kerr DK, Campbell H, Sieber O, Lipton L, Gibbs P, Montgomery G, Young J, Baird P, Zanke B, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Cheadle J, Pharoah P, Casey G, Dunlop MG, Houlston RS. The GREM1, BMP4 and BMP2 loci harbor multiple common susceptibility variants for colorectal cancer. PLOS Genetics, 2011, 7: e1002105.
Carvajal-Carmona, LG: Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Current Opinions in Genetics and Development, 2010, 20:308–314.
Carvajal-Carmona LG: Challenges in the identification and use of rare disease-associated predisposition variants. Current Opinions in Genetics and Development, 2010, 20:227–281
Carvajal-Carmona LG‡, Churchman M, Bonilla C, Walther A, Lefevre J, Kerr D, Dunlop M, Houlston R, Bodmer W, Tomlinson I: Comprehensive assessment of variation at the Transforming Growth Factor Beta Type I Receptor locus and colorectal cancer predisposition. Procedings of the National Academy of Science USA, 2010, 107(17): 7858-7862
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