Wellcome Trust Centre for Human Genetics

Dr Luis Carvajal-Carmona

Education

BSc (Animal Science, Honours, First class). Universidad Nacional de Colombia, 1998

PhD (Genetics), University College London, 2003

Research Interests

My primary research interests are in cancer molecular and genetic epidemiology and in population genetics. My research focuses on genetic studies of common cancer types in European populations as well as in cancers that occur disproportionally among Hispanic groups.

Research Aims

My primary research aims include the identification of cancer susceptibility genes and studies on how cancer-associated variants mediate risk. My investigations are highly disciplinary and involve large national and international collaborations and expertise from epidemiology, statistics, and germline and somatic genetics.

Ongoing initiatives

I am currently heavily involved in major projects aiming at dissecting the basis of common malignancies including breast, colorectal, endometrial and thyroid cancers using both candidate and genome-wide approaches. I also have leadership positions in the CHIBCHA, COLUMBUS and TCUKIN studies.

The Genetic study of Hereditary Bowel tumours in Hispania and Latin America (CHIBCHA) is an European Union funded initiative that is carrying out one of the largest studies of cancer genetics in Latin American populations. In this study we have collected data and bio-specimens from ~6,000 case-controls samples from Brazil, Colombia, and Mexico. These samples are about to be genotyped with Latino-specific genome-wide SNPs arrays. In CHIBCHA, we also have plans to sequence the complete genome of a number of tumours (and matching normal tissue) collected in the region.

The Thyroid Cancer Genetic investigation in the United Kingdom (TCUKIN) is an UK-wide study, supported by the NCRI, that is carrying out genetic studies of non-medullary thyroid cancer and that represents the largest existing cohort of patients with this common endocrine malignancy. So far, this study has recruited over 2,200 patients for genetics studies.

The Colombian Study of Environmental and Heritable Causes of Breast Cancer (COLUMBUS) is an initiative that aims to discover breast cancer causes in admixed populations. For this study, we recently secured funding, from the GlaxoSmithKline Ethnic Research Initiative, to carry out a large study of breast cancer genetics in populations of mixed Amerindian/European ancestry.

Selected Publications

Carvajal-Carmona LG, et al. 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, 20:2879-88. PubMed

Tomlinson I, Carvajal-Carmona LG*, et al. Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer. PLoS Genet 2011, 7:e1002105. PubMed

Carvajal-Carmona LG. Challenges in the identification and use of rare disease-associated predisposition variants.Curr Opin Genet Dev 2010, 20:277-281. PubMed

Carvajal-Carmona LG. Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Curr Opin Genet Dev 2010, 20:308-314. PubMed

Carvajal-Carmona LG, et al. Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition. Proc Natl Acad Sci USA 2010, 107(17):7858-7862. PubMed

Carvajal-Carmona LG, et al. Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Hum Mol Genet 2009, 18(10):1889-1892. PubMed

COGENT Consortium*. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008, 40(12):1426-1435. PubMed

Tomlinson IP, Webb E, Carvajal-Carmona L et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008, 40(5):623-630. PubMed

Jaeger E, Webb E, Howarth K, Carvajal-Carmona L* et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2008, 40(1):26-28. PubMed

Broderick P, Carvajal-Carmona L* et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.Nat Genet 2007, 39(11):1315-1317. PubMed

Tomlinson I, Webb E, Carvajal-Carmona L* et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 2007,39(8):984-988. PubMed

Carvajal-Carmona LG et al. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol 2007, 212(4):378-385. PubMed

Will O, Carvajal-Carmona LG*, et al.Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenomaphenotype without extraintestinal cancer. Gastroenterology 2007, 132(2):527-530. PubMed

Carvajal-Carmona LG et al.Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 2006, 91(8):3071-3075. PubMed

Kemp ZE, Carvajal-Carmona LG* et al. Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res 2006, 66(10):5003-5006. PubMed

Carvajal-Carmona LG et al.Abundant mtDNA diversity and ancestral admixture in Colombian criollo cattle (Bos Taurus). Genetics 2003, 165(3):1457-1463. PubMed

Carvajal-Carmona LG et al. Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Hum Genet 2003, 112(5-6):534-541. PubMed

Carvajal-Carmona LG et al. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet 2000, 67(5):1287-1295. PubMed

* Joint first author.

Supplementary Materials

Supplementary data for the paper "Comprehensive assessment of variation at the Transforming Growth Factor Beta Type I Receptor locus and colorectal cancer predisposition" by Luis G Carvajal-Carmona et al. Proc Natl Acad Sci USA, 2010, 107 (17):7858-7862 .

Supplementary Table 4: Association between genotyped (in bold) and imputed SNPs at the TGFBR1-containing haplotype block and CRC risk
Supplementary Table 5: Association between SNPs proximal and distal to the TGFBR1 haplotype block and CRC risk
Supplementary Table 6: Association between SNPs at and around TGFB1 , TGFB2, TGFB3 , TGFBR2 and TGFBR3 and CRC risk