Open AccessIdentification of a BRCA 2 mutation in a Turkish family with early‐onset breast cancer
Author(s) -
Celik Elifnaz,
Ermis Tekkus Kubra,
Akcay Izzet Mehmet,
Alkurt Sal Gizem,
Ezberci Fikret,
Dinler Doganay Gizem,
Doganay Levent
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1625
Subject(s) - breast cancer , germline , medicine , germline mutation , brca2 protein , genetic testing , genetics , mutation , daughter , identification (biology) , cancer , gene , biology , evolutionary biology , botany
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 BRCA 2 . Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.