Identification of a BRCA 2 mutation in a Turkish family with early‐onset breast cancer

Identification of a BRCA 2 mutation in a Turkish family with early‐onset breast cancer

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 BRCA 2 . Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in...

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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
Format: Artikel
Sprache:eng
Schlagworte:
Breast cancer
Case reports
Mutation
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Zusammenfassung: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 BRCA 2 . 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