Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

ConclusionsThe frequency ofBRCA1 orBRCA2 gene mutation carriers among patients with ovarian cancer from the Podkarpacie region is comparable to other regions of Poland. However, a significantly higher percentage ofBRCA2 gene mutations was observed, that were not detectable with a standard test for detection of founder mutations. Diagnostics based only on testing theBRCA1/2 Polish founder mutations is characterized by relatively low sensitivity in the case of ovarian cancer patients from South-East Poland and should be supplemented by NGS study, in particular of theBRCA2 gene.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research