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

Elifnaz Celik; Kubra Ermis Tekkus; Izzet Mehmet Akcay; Gizem Alkurt Sal; Fikret Ezberci; Gizem Dinler Doganay; Levent Doganay

doi:10.1002/ccr3.1625

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

Elifnaz Celik, Kubra Ermis Tekkus, Izzet Mehmet Akcay, Gizem Alkurt Sal, Fikret Ezberci, Gizem Dinler Doganay, Levent Doganay^*

^*Corresponding author for this work

Department of Molecular Biology and Genetics

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

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.

Original language	English
Pages (from-to)	1751-1755
Number of pages	5
Journal	Clinical Case Reports
Volume	6
Issue number	9
DOIs	https://doi.org/10.1002/ccr3.1625
Publication status	Published - Sept 2018

Bibliographical note

Publisher Copyright:
© 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Funding

This study was funded by Istanbul Development Agency and Istanbul Technical University Internal Research Funds.

Funders	Funder number
Istanbul Teknik Üniversitesi
Istanbul Kalkinma Ajansi

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/ccr3.1625

Cite this

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title = "Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer",

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.",

keywords = "ATM, BRCA1/2, early-onset breast cancer, genetics, multi-gene panel testing, oncology",

author = "Elifnaz Celik and \{Ermis Tekkus\}, Kubra and Akcay, \{Izzet Mehmet\} and \{Alkurt Sal\}, Gizem and Fikret Ezberci and \{Dinler Doganay\}, Gizem and Levent Doganay",

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AU - Celik, Elifnaz

AU - Ermis Tekkus, Kubra

AU - Akcay, Izzet Mehmet

AU - Alkurt Sal, Gizem

AU - Ezberci, Fikret

AU - Dinler Doganay, Gizem

AU - Doganay, Levent

PY - 2018/9

Y1 - 2018/9

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AB - 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.

KW - ATM

KW - BRCA1/2

KW - early-onset breast cancer

KW - genetics

KW - multi-gene panel testing

KW - oncology

UR - https://www.scopus.com/pages/publications/85050935999

U2 - 10.1002/ccr3.1625

DO - 10.1002/ccr3.1625

M3 - Article

AN - SCOPUS:85050935999

SN - 2050-0904

VL - 6

SP - 1751

EP - 1755

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 9

ER -

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

Abstract

Bibliographical note

Funding

Keywords

UN SDGs

Access to Document

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