Mutational analysis of and genes in Peruvian families with hereditary breast and ovarian cancer.

Background: Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to and germline mutations.

Methods: We performed a comprehensive analysis of and genes by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer.

Results: In this series, we found four pathogenic mutations, three previously reported (: c.302-1G>C and c.815_824dup10; : c.5946delT) and a duplication of adenines in exon 15 in gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants.

Conclusion: This is the first report to determine the spectrum of mutations in the genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known mutations and a c.4647_4648dupAA as a novel pathogenic mutation.