Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

摘要: BACKGROUND: Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BRCA) genes BRCA1 BRCA2 among Hispanics, including a large rearrangement Mexican founder mutation (BRCA1 exon 9-12 deletion [ex9-12del]), suggest that an ancestry-informed BRCA-testing strategy could reduce disparities promote prevention by enabling economic screening for hereditary Mexico. METHODS: In multistage approach, 188 patients with who were unselected family history (92 96 cancer) screened BRCA using Hispanic panel (HISPANEL) of 115 multiplex assay (114 on mass spectroscopy platform, polymerase chain reaction was used to screen ex9-12del mutation). This followed sequencing all exons adjacent intronic regions ligation-dependent probe amplification (MLPA) HISPANEL-negative patients. prevalence calculated correlated histology tumor receptor status, HISPANEL sensitivity estimated. RESULTS: detected 26 92 (28%) cancer, 14 (15%) overall, 9 33 (27%) had tumors negative estrogen receptor, progesterone human epithelial growth factor 2 (triple-negative cancer). Most diagnosed locally advanced disease. The ex9-12del) accounted 35% BRCA-associated cancers 29% cancers. At 2% MLPA cost, 68% mutations. CONCLUSIONS: this study, remarkably high observed not selected history, explained 33% total. remarkable frequency Mexico City supports nearby origin may constitute regional public health problem. presents translational opportunity cost-effective genetic testing enable prevention. Cancer 2014;000:000-000. V C 2014 American Society.