Article

A spectrum of <i>BRCA1</i> and <i>BRCA2</i> germline deleterious variants in ovarian cancer in Russia

2021-07-25

Abstract excerpt

Pathogenic mutations in BRCA1 and BRCA2 genes are essential biomarkers of an increased breast and ovarian cancer risk and tumor sensitivity to poly ADP ribose (PARP) inhibitors. In many countries, their detection includes patient prescreening with quantitative PCR (qPCR) identifying several founder mutations. In Russia, eight mutations are included in such tests, among which c.5266dup (5382insC) is the most freque...

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Literature Corpus work: 5ddac8b6-60c8-59ce-9dde-de78493febc8
DOI: 10.1101/2021.07.22.21260831

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