<scp>cDNA</scp> analysis of the <i><scp>BRCA1</scp></i> unclassified variant c.5194‐<scp>12G</scp>&gt;<scp>A</scp>

Wong‐Brown, Michelle W.; McPhillips, M. L.; Hipwell, Michael; Pecenpetelovska, G.; Dooley, Steven; Meldrum, Cliff; Scott, Rodney J.

doi:10.1111/cge.12052

Cited by 1 publication

(1 citation statement)

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“…A subset of the VUS is located in intronic sequences and these variants may play a role in the regulation of pre‐mRNA splicing and can be deleterious (Wong‐Brown et al. ). Some splice site prediction programs (SSPPs) have been developed to predict the possible effect of a variant on RNA splicing.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis ofBRCA1andBRCA2genes in Peruvian families with hereditary breast and ovarian cancer

Buleje

Guevara‐Fujita

Acosta

et al. 2017

Mol Genet Genomic Med

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BackgroundBreast 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 BRCA1 and BRCA2 germline mutations.MethodsWe performed a comprehensive analysis of BRCA1 and BRCA2 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.ResultsIn this series, we found four pathogenic mutations, three previously reported (BRCA1: c.302‐1G>C and c.815_824dup10; BRCA2: c.5946delT) and a duplication of adenines in exon 15 in BRCA1 gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants.ConclusionThis is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 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 BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.

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Section: Discussionmentioning

confidence: 99%