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.Electronic supplementary materialThe online version of this article (doi:10.1007/s10549-015-3629-3) contains supplementary material, which is available to authorized users.

Genetics, Tumor Features and Treatment Response of Breast Cancer in Latinas

“…Only 10.4% of BRCA mutations (n = 17) were shared between the US Hispanics and Latin America, and BRCA2 c.5946delT variant is one of the most frequently observed in Latin America (except for Mexico) but has still not been described in the US Hispanics. BRCA1 c.5123C>A is among the ten most frequent pathogenic variants in Latin America and has been reported in four countries of the region, despite it is not one of the most worldwide frequent BRCA1 variant [52]. They found that c.68 69delAG, c.5266dupC and c.4327C>T variants are frequent in Latin America and are among the 20 most frequent BRCA1 variants reported by the Breast Cancer Information Core (BIC) database.…”

“…Dutil et al performed a review of publications between 1994 and 2015 about BRCA evaluation in Hispanics and describe that only 8.02% (n = 13) of the reported pathogenic variants were present in two or more Latin American countries [52]. Only 10.4% of BRCA mutations (n = 17) were shared between the US Hispanics and Latin America, and BRCA2 c.5946delT variant is one of the most frequently observed in Latin America (except for Mexico) but has still not been described in the US Hispanics.…”

Genomic Disparities in Breast Cancer among Latinas

“…A review examined the spectrum of BRCA1 and BRCA2 mutations in Latin America and the Caribbean using studies published between the years 1994 and 2015. 22 Six of the 33 studies were conducted among Latina living in the United States, with the vast majority of participants drawn from clinic-based samples of patients of Mexican origin with breast cancer residing in California, Arizona, and Texas. 22 Prevalence estimates of carrying a BRCA mutation for this US Latina group ranged from 0.7% to 42% and varied based on whether cases were selected or unselected for family history or clinical characteristics (eg, affected vs unaffected, age at diagnosis), cancer site (eg, breast, ovarian), and type of testing (eg, inclusion of large rearrangement testing).…”

“…22 Six of the 33 studies were conducted among Latina living in the United States, with the vast majority of participants drawn from clinic-based samples of patients of Mexican origin with breast cancer residing in California, Arizona, and Texas. 22 Prevalence estimates of carrying a BRCA mutation for this US Latina group ranged from 0.7% to 42% and varied based on whether cases were selected or unselected for family history or clinical characteristics (eg, affected vs unaffected, age at diagnosis), cancer site (eg, breast, ovarian), and type of testing (eg, inclusion of large rearrangement testing). 22 In the cohorts of unselected patients with breast cancer, the BRCA mutation prevalence was 1.2% to 4.9%, which was consistent with expected rates.…”

Viable Options for Fertility Preservation in Breast Cancer Patients: A Focus on Latin America

“…This is also important to be taken into account in women from Latin American countries where the prevalence of BRCA mutations (ranging from 1.2 to 4.9%) is very similar to that of the non-Hispanic population in the USA 71 . Specific issues should be considered in the field of fertility preservation in cancer patients for BRCA carriers.…”