Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

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• 作者：Bá ; rbara Alemar^a ; ^b ; Josef Herzog^c ; Cristina Brinckmann Oliveira Netto^d ; Osvaldo Artigalá ; s^e ; Ida Vanessa D. Schwartz^a ; ^d ; ^f ; Camila Matzenbacher Bittar^a ; Patricia Ashton-Prolla^a ; ^b ; ^d ; ^f ; ^{pprolla@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jeffrey N. Weitzel^c
• 关键词：Hereditary breast and ovarian cancer ; BRCA1 ; BRCA2
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：209
• 期：9
• 页码：417-422
• 全文大小：205 K

文摘

Germline mutations in BRCA1 or BRCA2 (BRCA) are responsible for 5–15% of breast (BC) and ovarian cancers (OC), predisposing to the development of early onset and often multiple primary tumors. Since mutation carriers can benefit from risk-reducing interventions, the identification of individuals with hereditary breast and ovarian cancer (HBOC) syndrome has a significant clinical impact. We assessed whether a panel assay for recurrent Hispanic BRCA mutations (HISPANEL) has an adequate breadth of coverage to be suitable as a cost effective screening tool for HBOC in a cohort of patients from Southern Brazil. A multiplex, PCR-based panel was used to genotype 232 unrelated patients for 114 germline BRCA mutations, finding deleterious mutations in 3.5% of them. This mutation prevalence is within the range detected by the HISPANEL among BC patients unselected for family history in other Latin American settings. The HISPANEL would have accounted for 27% of the BRCA mutations detected by complete sequencing in a comparison cohort (n = 193). This prevalence may be region-specific since significant differences in population structure exist in Brazil. Comprehensive analysis of BRCA in a larger set of HBOC patients from different Brazilian regions is warranted, and the results could inform customization of the HISPANEL as an affordable mutation screening tool.