Publications

Selected Publications

For a complete list of publications, please click here.

  1. Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women. Cancer Research, 2020 Pubmed
  2. Editorial: Accomplishments, Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition. Frontiers in Oncology, 2019 Pubmed
  3. A polygenic risk score for breast cancer in U.S. Latinas and Latin-American women. Journal of the National Cancer Institute, 2019 Pubmed
  4. BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry. Endocrine Connections, 2019 Pubmed
  5. Racial/ethnic differences in survival among gastric cancer patients in california. Cancer Causes and Control, 2019 Pubmed
  6. Neuropathological Diagnoses of Demented Hispanic, Black, and Non-Hispanic White Decedents Seen at an Alzheimer’s Disease Center. Journal of Alzheimers Disease, 2019 Pubmed
  7. Identification of novel common breast cancer risk variants at the 6q25 locus among Latinas. Breast Cancer Research, 2019
  8. Subtypes and Driver Mutations in Latinos with Gastric Cancer: Implications for Etiological and Translational Research. Advancing the Science of Cancer in Latinos, 2019 Springer
  9. Resolving gastric cancer aetiology: an update in genetic predisposition. Lancet Gastroenterology and Hepatology, 2018
  10. Moving the needle on colorectal cancer genetics: it takes more than two to TANGO British Journal of Cancer, 2018 Pubmed
  11. Progress and future challenges in again and diversity research in the United States Alzheimer’s & Dementia, 2018 Pubmed
  12. Native American gene community to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies FSI Genetics, 2018 Pubmed
  13. PALB2 as a familial gastric cancer gene: is the wait over? Gastroenterology & Hepatology, 2018 Pubmed
  14. Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. Scientific Reports 2017 Pubmed
  15. BRCA1 and BRCA2 founder mutaitons account for 78% of germline carriers among hereditary breast cancer families in Chile Oncotarget, 2017, 8(43): 74243. Pubmed
  16. Germline mutations in PALB2, BRCA1, and RAD51C, which regulate DNA recombination repair, in patients with gastric cancer. Gastroenterology, 2016, S0016-5085(16)35521-4.
  17. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia. Medicine (Baltimore), 2016, 95(40):e4883. Pubmed
  18. Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk. Medicine (Baltimore), 2016, 95(32):e4148. Pubmed
  19. RE: HABP2 G534E mutation in familial nonmedullary thyroid cancer. Journal of the National Cancer Institute, 2016, 108(8).
  20. The hunting of the snark: whither genome-wide association studies for colorectal cancer? Gastroenterology, 2016, 150(7):1528-30.
  21. The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics. Endocrine Connections, 2016, 5(3):123-7. Pubmed
  22. The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer. Journal of Clinical Endocrinology and Metabolism, 2015. Pubmed
  23. The 8q24 rs6983267G variant is associated with increased thyroid cancer risk. Endocrine Related Cancer, 2015, 22(5):841-849. Pubmed
  24. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 2014, 24(5):1478-1492. Pubmed
  25. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics, 2014, 134(2):231-245. Pubmed
  26. Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25. Nature Communications, 2014, 5:5260. Pubmed
  27. Germline Variants and Advanced Colorectal Adenomas: Adenoma Prevention with Celecoxib Trial Genome-wide Association Study. Clinical Cancer Research, 2013, 19(23):6430-7. Pubmed
  28. Much of the population genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology, 2013, 144:53-55. Pubmed
  29. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics 2012 Dec 23;45(2):136-144 Pubmed
  30. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nature Genetics, 2012, 44: 770-776. Pubmed See also
  31. 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. Pubmed PMC Full text
  32. 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.Pubmed PMC Full text
  33. The GREM1, BMP4 and BMP2 loci harbor multiple common susceptibility variants for colorectal cancer. PLOS Genetics, 2011, 7: e1002105.Pubmed PMC Full text
  34. 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.Pubmed
  35. Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles. Current Opinions in Genetics and Development, 2010, 20:308-314.Pubmed
  36. Challenges in the identification and use of rare disease-associated predisposition variants. Current Opinions in Genetics and Development, 2010, 20:227-281.Pubmed
  37. 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.Pubmed PMC Full text
  38. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nature Genetics, 2009, 41(8):885-890. Pubmed See also
  39. Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Human Molecular Genetics, 2009, 18(10):1889-1892.Pubmed Free Fulltext
  40. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nature Genetics, 2008, 40(5):623-630.Pubmed
  41. 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.Pubmed PMC Full text
  42. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature Genetics, 2008, 40(1):26-28.Pubmed
  43. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nature Genetics, 2007, 39(11):1315-1317.Pubmed
  44. 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.Pubmed See also
  45. 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.Pubmed PMC Full text Research Highlight Editorial (Pubmed) Editorial (PMC Full text)