Luis G Carvajal Carmona, Ph.D. Associate Professor
451 Health Sciences Drive
Davis Campus
Ph: 530-752-9654
e-mail

For more details on our research, please visit our research group website »

Our research group, based at the Genome Center, is interested in the study of cancer genetic susceptibility. We use genetic and genomic approaches to identify novel cancer-causing gene and mutations in human populations and in multi-case cancer families. We are also interested in investigating somatic genetic pathways and clonal architecture of common cancer types. An important number of our studies focus on the genetics and epidemiology of cancer in Hispanics, for which we have developed long-standing collaborations with researchers in Latin America and Europe. At the UC Davis School of Medicine, we are active members of our Comprehensive Cancer Center and have collaborations with physicians and scientists in the Pathology, GI and GYN/OBG departments. In the main UC Davis campus, we collaborate with researchers in the Schools of Biological Sciences and of Agriculture, with whom we are developing large animal disease models and investigate the genetics and function of DNA repair genes that are involved in cancer risk in humans. We also participate actively in several graduate groups on campus.

See: A complete and updated list of publications »

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 L-J, Han X-Y, Latin American Gastric Cancer Genetics Collaborative Group, Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal-Carmona, LG. Germline mutations in PALB2, BRCA1 and RAD51C, which regulate DNA recombination repair, in patients with gastric cancer. Gastroenterology, 2017 Apr;152(5):983-986.e6.

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. Clinical characteristics of colorectal cancer patients recruited in a large multi-center study in Colombia. Medicine (Baltimore), 2016, 95:40(e4883).

Estrada AP, Bohórquez ME, Sahasrabudhe R, Prieto R, Lott P, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona LG. Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk. Medicine (Baltimore), 2016, 95:32 (e4148). doi: 10.1097/MD.0000000000004148.

Carvajal-Carmona LG‡, Tomlinson I. The hunting of the snark: whither GWAS for gastrointestinal cancer? Gastroenterology, 2016,150(7):1528-30. doi: 10.1053/j.gastro.2016.04.021.

Bohórquez ME, Estrada AP, Stultz J, Sahasrabudhe R, Lott P, Williamson J, Duque CS, Donado J, Mateus G, Bolaños F, Vélez A, Echeverry M, Carvajal-Carmona LG. The HABP2 G534E polymorphism does not cause thyroid cancer in Hispanics. Endocrine Connections, 2016, May; 5(3):123-7. doi: 10.1530/EC-16-0017.

Carvajal-Carmona LG‡, Tomlinson I, Sahasrabudhe R. Re: HABP2 G543E mutation in familial nonmedullary thyroid cancer. Journal of National Cancer Institute, 2016, 108(8), djw108. doi: 10.1093/jnci/djw108.

Carvajal Carmona LG. The HABP2 G534E variant is unlikely to be implicated in the risk of familial or sporadic non-medullary thyroid cancer. Clinical Thyroidology, 2016, 28 (2): 52-54.

Sahasrabudhe R, Williamson J, Estrada A, Stultz J, Lott P, Prieto R, Bohorquez M, Criollo A, Velez A, Duque CS, TCUKIN Consortium, Tomlinson I, Echeverry M, Carvajal Carmona LG. The HAPB2 G534E variant is an unlikely cause of non-medullary thyroid cancer. Journal of Clinical Endocrinology and Metabolism, 2016, 101: 1098-1103. doi:jc20153928.

Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM, Gorman M, Martin L, Hodgson S, 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, Henrica TS, Werner M, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M, Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N, Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch F, Giles G, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah DP, Dunning AM, Tomlinson I, Dowsett M, Easton DF, and Spurdle AB. Fine-scale mapping of the CYP19A1 locus and Mendelian randomization support a causal role for estradiol in endometrial cancer risk. Endocrine Related Cancer, 2016, 23 (2): 77-91. doi:10.1530/ERC-15-0386.

Huang EC, Kindelberger DW, Carvajal-Carmona L. Pathology and molecular pathology of uterine and ovarian cancers. Chapter in Pathology and Epidemiology of Cancer: Molecular Underpinnings. Edited by Loda M, Mucci L, Van Hemelrijck M, Tchrakian N, Mittelstadt M. Springer, NY. In press.

Montazeri Z, Theodoratou E, Nyiraneza C, Timofeeva M, Chen W, Svinti V, Sivakumaran S, Gresham G, Cubitt L, Carvajal-Carmona L, Bertagnoli M, Zauber G, Tomlinson I, Farrington S, Dunlop M, Campbell H, Little J. Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. International Journal of Epidemiology, 2016, 45(1):186-205, doi: 10.1093/ije/dyv185.

Cheng THT, Thompson D, Painter J, O’Mara T, Gorman, M, Marin L, Palles C, Jones A, Buchannan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Chenevix-Trench G, Giles G, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Lambrechts D, Fasching P, Burwinke B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Lindblom A, Hall P, Echeverry de Polanco M, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguilar Jnr S, Teixeira M, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific Reports, 2015, 5, 17360. Doi: 10.1038/srep17369.

Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A, Neta, G, Takahasi M, Vladimir S, Mitsutake N on behalf of the JTCMS Consortiu m, Jaeger E, Duque CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I on behalf of TCUKIN and CORGI Consortiums, Carvajal Carmona LG‡. The 8q24 rs6983267G variant is associated with increased thyroid cancer risk. Endocrine Related Cancer, 2015, 22 (5): 841-849.

Weren RDA, Venkatachalam R, Cazier J-B, Farin HF, Kets CM, Voer RM, Vreede L, Verwiel ETP, van Asseldonk M, Kamping EJ, Kiemeney LALM, Neveling K, Aben KHK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJL, Hoogerbrugge N, van Kessel AD, Kuiper RP. Germline deletions in the tumor suppressor gene FOCAD are associated with polyposis and colorectal cancer development. Journal of Pathology, 2015, 236(2): 155-164.

Villanueva P, Nudel R, Hoischen A, Fernandez MA, Simpson NH, Gilissen C, Reader RR, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O’Hare A, Bolton PF, Hennessey ER, SLI Consortium, Palomino H, Carvajal-Carmona L, Veltman J, Cazier J-B, Fisher SE, Newbury DF. Exome sequencing in isolated populations indicates that NFXL1 variants confer a risk of Specific Language Impairment. PLoS Genetics, 2015, 11:e1004925.

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), The 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 HMJ, Scott RJ, 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, The 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 A-L, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, Pharoah PDP, 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, 134:231-245.

Painter JN, O’Mara T, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, French JD, Hillman KM, Kaufmann S, 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, Echeverry de Polanco M, Sans M, Carracedo, Castellvi-Bel S, Rojas Martinez A, Santos E, Teixeira M, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang Y-B, The 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 HMJ, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E, RENDOCA, Hall P, Czene K, Liu J, Li J, Hopper J, Southey M, Australian Ovarian Cancer Study (AOCS), Ekici AB, Ruebner M, Johnson N, Peto K, Burwinkel B, Marme F, Brenner H, Zaineddin AK, Meindl A, Brauch H, The GENICA Network, Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Flesch-Janys D, Couch FJ, Olson JE, Giles GG, Baglietto L, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber R, Chen Z, Shah M, Pharoah PDP, Dunning AM, Tomlinson I, Easton DF, Edwards SL, Thompson DJ, Spurdle AB. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 2015, 24:1478-1492.

Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman K, Caswell J, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona LG, Echeverry M, Tuazon AMD, Ramirez C, COLUMBUS Consortium, Gignoux C, Eng C, Gonzalez-Burchard E, Henderson B, Le Marchand L, Kooperberg C, Hou L, Agalliu I, Kraft P, Lindstrom S, Perez-Stable E, Haiman CA, Ziv E. Genome-wide association study of breast cancer in Latinas identifies protective variants of Indigenous American origin on 6q25. Nature Communications, 2014, 5:5260

Extensively highlighted in the popular press including the New York Times, Wall Street Journal, Time and the San Francisco Tribune

Wang J, Carvajal-Carmona LG, Chu J, Zauber A, Kubo M, Matsuda K, Dunlop M, Houlston R, Sieber O, Lipton L, Gibbs P, Martin N, Montgomery G, Young J, Bairt P, Ratain M, Nakamura Y, Weiss S, Tomlinson I, Bertagnolli M. Germline Variants and Advanced Colorectal Adenomas: Adenoma Prevention with Celecoxib Trial Genome wide Association Study. Clinical Cancer Research, 2013, 19: 6430-6437.

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, The EPICOLON Consortium, Moreno V, Castells A, Carracedo A, Castellvi-Bel S, Ruiz-Ponte C. A Colorectal Cancer Genome-Wide Association Study in a Spanish cohort identifies two new candidate colorectal cancer susceptibility variants at 1p33 and 8p12. BMC Genomics, 2013, 14: 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. Germline mutations in POLE and POLD1 affecting the proofreading domains predispose to colorectal adenomas and carcinomas. Nature Genetics, 2013, 45: 136-144.

See also the News and Views: Seshagiri, S. The burden of faulty proofreading in colon cancer, Nature Genetics, 2013, 45:121-124.

Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas M-J, Baiget M, Lopez j-L, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2/BMP4 colorectal cancer susceptibility loci in Northern and Southern European populations. Carcinogenesis. 2013, 34:314-318.

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.

Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Kossler T, Pharoah P, Schafmayer C, Hampe J, Volzke 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, Abulı A, Bessa Z, Ruiz-Ponte C, Castellvı-Bel S, Niittymaki 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 H, Houlston RS. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut, 2013, 62:871-881.

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.

See also comment in: Castellvi-Bel S, Abuli A, Castells A. Meta-analysis of several GWAS sets yields additional genetic susceptibility variants for colorectal cancer: first X-linked component identified. Gastroenterology, 2012, 143(6): 1684-1685.

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.

Houlston RS, Members of COGENT (COGENT: Aaltonen LA, Brenner H, Buch S, Campbell H, Carracedo A, Carvajal-Carmona L, Castells A, Castellví-Bel S, Cheadle JP, Devilee P, Dunlop M, Echeverry MM, Gallinger S, Galvan A, Hampe J, Hemminki K, Ho JW, Hofstra RMW, Hudson TJ, Kirac I, Lerch MM, Li L, Lindblom A, Lipton L, Matsuda K, Maughan TS, Moreno V, Morreau H, Naccarti A, Nakamura Y, Peterlongo P, Pharoah PD, Sieber O, Radice P, Ruiz-Ponte C, Schafmayer C, Schmidt CA, von Schönfels W, Schreiber S, Scott R, Sham P, Tenesa A, Tomlinson IPM, Velez A, Villanueva Cm, Vodicka P, Völzke H, van Wezel T, Wijnen JT, Zanke B). COGENT (COlorectal cancer GENeTics) revisited. Mutagenesis, 2012, 27:146-151.

Spain SL, Carvajal-Carmona LG, Howarth KM, Jones AM, Su Z, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Cheadle J, Li L, Vodicka P, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Dunlop M, Houlston RS, Tomlinson IPM. Refinement of the associations between colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human Molecular Genetics, 2012, 21:934-946.

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.

Abulí A, Fernandez-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, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer, 2011, 11:339.

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 IPM, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, and Castellví-Bel S, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. British Journal of Cancer, 2011, 105:870-875.

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. Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer. PLOS Genetics, 2011, 7: e1002105.

Alonso-Espinaco V, Giráldez M, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones A, Echeverry M, Velez A, Tomlinson I, Milà M, Wijnen J, Trujillo C, Carvajal-Carmona L, Castells A, Castellvi-Bel S: Novel MLH1 duplication identified in Colombian families with Lynch Syndrome. Genetics in Medicine, 2011, 13 (2): 155-160.

Ho J, Choi AS, Lee YF, Hui TC, Cherny SC, Garcia-Barcelo MM, Carvajal-Carmona L, Liu R, To SH, Yau T-K, Chung CC, Yau CC, Hui SM, Lau PY, Yuen CH, Wong YW, Ho S, Fung SS, Tomlinson IP, Houlston RS, Cheung KK, Sham PC: Replication Study of SNP Associations for Colorectal Cancer in Hong Kong Chinese. British Journal of Cancer, 2011: 104(2): 369-375.

Venkatachalam R, Ligtenberg M, Hoogerbrugge N, Schackert H, Goossens M, Hahn M, Kamping E, Vreede L, Hoenselaar E, van der Looij E, Görgens H, Churchman M, Carvajal-Carmona L, Tomlinson I, de Bruijn D, van Kessel A, Kuiper R: Germline epimutation of the tumor suppressor gene PTPRJ in early onset familial colorectal cancer. Gastroenterology, 2010, 139: 2221-2224.

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; The COGENT Consortium, Thomas HJ, Lucassen AM, Evans DG, Maher ER; The CORGI Consortium; The COIN Collaborative Group; The 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: Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nature Genetics, 2010, 42:973-979.

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, Silver A, Tomlinson I: Molecular Genetics of Familial Adenomatous Polyposis. Hereditary Colorectal Cancer. Pages 45-66. Edited by Rodriguez-Bigas M, Cutait R, Lynch P, Tomlinson I, Vasen H. Springer, New York.

Elliott K, Zeggini E, McCarthy M, Gudmundsson J, Sulem P, Stacey S, Thorlacius S, Amundadottir L, Grönberg H, Xu J, Gaborieau V, Eeles R, Neal D, Donovan J, Hamdy F, Muir K, Hwang S, Spitz M, Zanke B, Carvajal-Carmona L, Brown K, Mann G, Hayward N, Macgregor S, Tomlinson I, Lemire M, Amos C, Murabito J, Isaacs W, Easton D, Brennan P, The PanScan Consortium, Barkardottir R, Gudbjartsson D, Rafnar T, Chanock S, Hunter D, Stefansson K, Ioannidis J: Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLOS One, 2010, 5(5):e10858.

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. Proceedings of the National Academy of Science USA, 2010, 107(17): 7858-7862.

Tomlinson IP, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, Koessler T, Pharoah PD, Niittymaki I, Tuupanen S, Aaltonen LA, Hemminki K, Lindblom A, Forsti A, Sieber O, Lipton L, van Wezel T, Morreau H, Wijnen JT, Devilee P, Matsuda K, Nakamura Y, Castellvi-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, Volzke 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: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. British Journal of Cancer, 2010, 102(2):447-454.

Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Bjorklund M, Wei G, Yan J, Niittymaki I, Mecklin JP, Jarvinen H, Ristimaki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA: The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nature Genetics, 2009, 41(8):885-890.

See also News and Views: Harismendy O, Frazer KA. Elucidating the role of 8q24 in colorectal cancer. Nature Genetics, 41, 868-869.

Spain SL, Cazier JB, Houlston R, Carvajal-Carmona L, Tomlinson I: Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Research, 2009, 69(18):7422-7429.

Carvajal-Carmona LG‡, Spain S, Kerr D, Houlston R, Cazier JB, Tomlinson I: Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Human Molecular Genetics, 2009, 18(10):1889-1892.

Velez A, Gaitan MH, Marquez JR, Castano A, Restrepo JI, Jaramillo S, Gamarra A, Novelli M, Echeverry MM, Tomlinson I, Carvajal-Carmona LG‡: Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. Clinical Genetics, 2009, 75(3):304-306.

COGENT Consortium: Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S, Carvajal-Carmona L*, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS, Kerr D, Cazier JB, Niittymaki 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, Volzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nature Genetics, 2008, 40(12):1426-1435.

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, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellvi-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, Forsti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agundez JA, Ladero JM, de la Hoya M, Caldes T, Niittymaki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS: Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Human Molecular Genetics, 2008, 17(23):3720-3727.

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: Deciphering the genetics of hereditary non-syndromic colorectal cancer. European Journal of Human Genetics, 2008, 16(12):1477-1486.

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, Schafmayer C, Buch S, Volzke 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, Castellvi-Bel S, Ruiz-Ponte C, Carracedo A, Castells A, Forsti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agundez JA, Ladero JM, de la Hoya M, Caldes T, Niittymaki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS: A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nature Genetics, 2008, 40(5):623-630.

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, Volzke 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: Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nature Genetics, 2008, 40(5):631-637.

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, Farrington S, Tenesa A, Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R, Tomlinson I: Common genetic variants at the CRAC1 locus on chromosome 15q13.3 influence colorectal cancer risk. Nature Genetics, 2008, 40(1):26-28.

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, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS: A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nature Genetics, 2007, 39(11):1315-1317.

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, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R: A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nature Genetics, 2007, 39(8):984-988.

See also comment: Castelvi-Bel S, Castells A. Beginning to unravel the common, low-penetrance genetic components behind colorectal cancer by whole genome association scans. Gastroenterology, 2007, 133(6):2063-5.

Chow E, Lipton L, Carvajal-Carmona LG, Arthur G, Bhathal P, Kaur G, Jaeger E, Woodford-Richens K, Howarth K, Tomlinson I, Macrae F: A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene? Journal of Gastroenterology and Hepatology, 2007, 22(12):2292-2297.

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: Molecular classification and genetic pathways in hyperplastic polyposis syndrome. Journal of Pathology, 2007, 212(4):378-385.

Will O, Carvajal-Carmona LG*, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Gunther T, Silver A, Clark SK, Tomlinson I: Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology, 2007, 132(2):527-530.

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: Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Human Molecular Genetics, 2006, 15(19):2903-2910.

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: Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. Journal of Clinical Endocrinology and Metabolism, 2006, 91(8):3071-3075.

Kokko A, Laiho P, Lehtonen R, Korja S, Carvajal-Carmona LG, Jarvinen H, Mecklin JP, Eng C, Schleutker J, Tomlinson IP, Vahteristo P, Aaltonen LA: EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. BMC Cancer, 2006, 6:145.

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: Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Research, 2006, 66(10):5003-5006.

Herzberg I, Jasinska A, Garcia J, Jawaheer D, Service S, Kremeyer B, Duque C, Parra MV, Vega J, Ortiz D, Carvajal L, Polanco G, Restrepo GJ, Lopez C, Palacio C, Levinson M, Aldana I, Mathews C, Davanzo P, Molina J, Fournier E, Bejarano J, Ramirez M, Ortiz CA, Araya X, Sabatti C, Reus V, Macaya G, Bedoya G, Ospina J, Freimer N, Ruiz-Linares A: Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34. Human Molecular Genetics, 2006, 15(21):3146-3153.

Bedoya G, Montoya P, Garcia J, Soto I, Bourgeois S, Carvajal L, Labuda D, Alvarez V, Ospina J, Hedrick PW, Ruiz-Linares A: Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate. Proceedings of the National Academy of Science USA, 2006, 103(19):7234-7239.

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: Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene, 2005, 24(22):3678-3683.

Carvajal-Carmona LG, Bermudez N, Olivera-Angel M, Estrada L, Ossa J, Bedoya G, Ruiz-Linares A: Abundant mtDNA diversity and ancestral admixture in Colombian criollo cattle (Bos taurus). Genetics, 2003, 165(3):1457-1463.

Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, Ospina J, Bedoya G, Freimer N, Ruiz-Linares A: Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Human Genetics, 2003, 112(5-6):534-541.

Pineda-Trujillo N, Carvajal-Carmona LG, Buritica O, Moreno S, Uribe C, Pineda D, Toro M, Garcia F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A: A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. Neuroscience Letters, 2001, 298(2):87-90.

Carvajal-Carmona LG, Soto ID, Pineda N, Ortiz-Barrientos D, Duque C, Ospina-Duque J, McCarthy M, Montoya P, Alvarez VM, Bedoya G, Ruiz-Linares A: Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. American Journal of Human Genetics, 2000, 67(5):1287-1295.

See also: Research Highlight. Alfred, J. Population Genetics: Founding populations: Colombian blend? Nature Reviews Genetics, 1:164; and Seielstad M. Asymmetries in the maternal and paternal genetic histories of Colombian populations. American Journal of Human Genetics, 2000, 67(5):1062-1066.

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: An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia. Neuroscience Letters, 2000, 292(3):199-202.

Several book chapters and journal articles in Spanish. Several published meeting abstracts. Details of these publications are available on request or can be found on my Google Scholar page.

  • (2014) K12 Paul Calabresi in Clinical Oncology
  • (2014) Latino Aging Research Resource Center Scholar
  • (2013) Outstanding Alumni Award. BSc Animal Science, Universidad Nacional de Colombia.
  • (2013) V Foundation Scholar
  • (2011) Semi-finalist. Trainee Research Award, American Society for Human Genetics for abstract submission to the 12th International Congress of Human Genetics. Montreal, Canada
  • (2009) Winner of the Divisional Research Prize. Medical Sciences Division, University of Oxford.
  • (2009) Finalist. Neel Award for Young Investigators. International Genetic Epidemiology Society.
  • (2008) Winner of the European Association for Cancer Research 40th Anniversary Research Award.
  • (2004) Research Fellowship. London Research Institute, United Kingdom
  • National Institutes of Health