title: The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
abstract: Hereditary cancer predisposition gene testing allows the identification of individuals at high risk of cancer that may benefit from increased surveillance, chemoprevention, and prophylactic surgery. In order to implement clinical genetic strategies adapted to each population's needs and intrinsic genetic characteristic, this review aims to present the current status of knowledge about the spectrum of BRCA pathogenic variants in Latin American populations. We have conducted a comprehensive review of 33 studies published between 1994 and 2015 reporting the prevalence and/or spectrum of BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) variants. The combined sample size for these studies consisted of 4835 individuals from 13 countries in Latin America and the Caribbean, as well as in Hispanics in the United States. A total of 167 unique pathogenic variants have been reported in the existing literature. In unselected breast cancer cases, the prevalence ranged from 1.2 to 27.1%. Some countries presented a few recurrent pathogenic variants, while others were characterized by diverse, non-recurrent variants. The proportion of BRCA pathogenic variants shared between Hispanics in the United States and Latin American populations was estimated at 10.4%. Within Latin America and the Caribbean, 8.2% of the BRCA variants reported were present in more than one country. Countries with high prevalence of BRCA pathogenic variants may benefit from more aggressive testing strategies, while testing of recurrent variant panels might present a cost-effective solution for improving genetic testing in some, but not all, countries.
authors.affiliation: Ponce Research Institute, Ponce Health Sciences University, Ponce, PR, USA. jdutil@gmail.com.
authors.forename: Julie
authors.initials: J
authors.lastname: Dutil
authors.affiliation: Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
authors.forename: Volha A
authors.initials: VA
authors.lastname: Golubeva
authors.affiliation: Ponce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
authors.forename: Alba L
authors.initials: AL
authors.lastname: Pacheco-Torres
authors.affiliation: Ponce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
authors.forename: Hector J
authors.initials: HJ
authors.lastname: Diaz-Zabala
authors.affiliation: Ponce Research Institute, Ponce Health Sciences University, Ponce, PR, USA.
authors.forename: Jaime L
authors.initials: JL
authors.lastname: Matta
authors.affiliation: Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
authors.forename: Alvaro N
authors.initials: AN
authors.lastname: Monteiro
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D017691:Caribbean Region; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005828:Genetics, Population; D006630:Hispanic or Latino; D006801:Humans; D007843:Latin America; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D014481:United States
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1; BRCA2; Breast cancer; Genetic testing; Hereditary; Hispanics; Latin America