Analysis of 3297 individuals suggests that the pathogenic germline 5 ′-UTR variant BRCA1 c.-107A  & gt;  T is not common in south-east Germany

In this study we aim to determine the prevalence of the recently identified pathogenicBRCA1 variant c.-107A  >  T in the south-east German population. This variant causes the epigenetic silencing of theBRCA1 promotor and has been detected in two independent families from the UK without a germlineBRCA1 orBRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and ovarian cancer and fulfilling the clinical criteria necessary for genetic testing in Germany were analyzed for presence of the variant by a Kompetitive Allele-Specific PCR (KASP) assay or direct Sanger sequencing. Since we did not detect an individual carrying the variant we conclude thatBRCA1 c.-107A  >  T is not a common variant in the south-east German population.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research