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

被引：2

作者：

Celik, Elifnaz ^{[1
,2
]}

Tekkus, Kubra Ermis ^{[2
,3
]}

Akcay, Izzet Mehmet ^{[1
,2
]}

Sal, Gizem Alkurt ^{[1
,2
]}

Ezberci, Fikret ^{[2
,4
]}

Doganay, Gizem Dinler ^{[1
,2
]}

Doganay, Levent ^{[2
,5
]}

机构：

[1] Istanbul Tech Univ, Dept Mol Biol Genet & Biotechnol, Istanbul, Turkey

[2] Istanbul Assoc Northern Anatolian Publ Hosp, GLAB Genom Lab, Istanbul, Turkey

[3] Univ Hlth Sci, Dept Gen Surg, Umraniye Teaching & Res Hosp, Istanbul, Turkey

[4] Univ Hlth Sci, Umraniye Teaching & Res Hosp, Dept Clin Genet, Istanbul, Turkey

[5] Univ Hlth Sci, Umraniye Teaching & Res Hosp, Dept Gastroenterol & Hepatol, Istanbul, Turkey

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 09期

关键词：

ATM; BRCA1/2; early-onset breast cancer; genetics; multi-gene panel testing; oncology;

D O I：

10.1002/ccr3.1625

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1751 / 1755

页数：5

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