Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.
Elifnaz CelikKubra Ermis TekkusIzzet Mehmet AkcayGizem Alkurt SalFikret EzberciGizem Dinler DoganayLevent DoganayPublished in: Clinical case reports (2018)
We used a multi-gene panel testing to identify the germline variants in a mother-daughter pair with early-onset breast cancer, and detected one pathogenic protein-truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.