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

Key Clinical Message 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 m...

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Veröffentlicht in:Clinical case reports 2018-09, Vol.6 (9), p.1751-1755
Hauptverfasser: Celik, Elifnaz, Ermis Tekkus, Kubra, Akcay, Izzet Mehmet, Alkurt Sal, Gizem, Ezberci, Fikret, Dinler Doganay, Gizem, Doganay, Levent
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Sprache:eng
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Zusammenfassung:Key Clinical Message 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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1625