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Department of Biochemistry and Molecular Medicine

Department of Biochemistry and Molecular Medicine

Luis G Carvajal Carmona, Ph.D.

Luis G Carvajal Carmona, Ph.D.

Assistant Professor
Biochemistry and Molecular Medicine
Genome and Biomedical Sciences Facility
451 Health Sciences Drive
Davis Campus
Ph: (530) 752 9654
e-mail

Recent/Current
Research Funding

GSK Oncology

V Foundation

Graduate Group Affiliations

Biochemistry, Molecular, Cellular and Developmental Biology

Genetics

Research Interests

Our research group, based at the UC Davis Genome Center, is interested in the genetic susceptibility of cancer. We use classic and modern mapping approaches to identify cancer susceptibility genes in human populations and in multi-case cancer families. We are also interested in investigating somatic genetic pathways in common cancer types and have a particular interest in investigating how germline variants affect somatic changes. We have a number of studies that focus on the genetics and epidemiology of cancer in Hispanic populations and have long standing collaborations with researchers in Colombia, Brazil and Mexico. At UC Davis, we are members of the UC Davis Comprehensive Cancer Center, where we collaborate with several basic scientist and clinicians in a number of studies that investigate on cancer genetics/genomics and pharmacogenetics in the populations from the California Central Valley. For more details on our research, please visit our research group website (http://carvajal.genomecenter.ucdavis.edu/)

 

Representative Publications

For a complete and updated list see http://scholar.google.com/citations?user=-qlpXTIAAAAJ&hl=en

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. 2013 Dec 1;19(23):6430-7

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.

See also comment in: Castelvi-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.

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.

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, 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 Sciences USA, 2010, 107(17): 7858-7862

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.

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.

COGENT Consortium: (Houlston RS* et al, , Carvajal-Carmona L* et al, Farrington et al): Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nature Genetics, 2008, 40(12):1426-1435.

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 (HMPS) 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.

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.

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.

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.

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

 

Selected Honors and Awards

  • (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