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^*

^*Bu çalışma için yazışmadan sorumlu yazar

Mol.Biyoloji ve Genetik Bölümü

Istanbul Technical University
Istanbul Association of Northern Anatolian Public Hospitals
University of Health Sciences

Araştırma sonucu: Dergiye katkı › Makale › bilirkişi

1 Atıf (Scopus)

Özet

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.

Orijinal dil	İngilizce
Sayfa (başlangıç-bitiş)	1751-1755
Sayfa sayısı	5
Dergi	Clinical Case Reports
Hacim	6
Basın numarası	9
DOI'lar	https://doi.org/10.1002/ccr3.1625
Yayın durumu	Yayınlandı - Eyl 2018

Bibliyografik not

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

Finansman

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

Finansörler
Istanbul Teknik Üniversitesi
Istanbul Kalkinma Ajansi

BM SKH

Bu sonuç, aşağıdaki Sürdürülebilir Kalkınma Hedefine/Hedeflerine katkıda bulunur

SKH 3 Sağlık ve Kaliteli Yaşam

Belgeye Erişim

10.1002/ccr3.1625

Diğer Dosyalar ve Linkler

Link to publication in Scopus

Alıntı Yap

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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",

note = "Publisher Copyright: {\textcopyright} 2018 The Authors. Clinical Case Reports published by John Wiley \& Sons Ltd.",

year = "2018",

month = sep,

doi = "10.1002/ccr3.1625",

language = "English",

volume = "6",

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TY - JOUR

T1 - Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer

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

N2 - 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.

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

Özet

Bibliyografik not

Finansman

BM SKH

Belgeye Erişim

Diğer Dosyalar ve Linkler

Parmak izi

Alıntı Yap