Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer

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Abstract

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.

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Celik, E., Ermis Tekkus, K., Akcay, I. M., Alkurt Sal, G., Ezberci, F., Dinler Doganay, G., & Doganay, L. (2018). Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer. Clinical Case Reports, 6(9), 1751–1755. https://doi.org/10.1002/ccr3.1625

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