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

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


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 languageEnglish
Pages (from-to)1751-1755
Number of pages5
JournalClinical Case Reports
Issue number9
Publication statusPublished - Sept 2018

Bibliographical note

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


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

FundersFunder number
Istanbul Teknik Üniversitesi
Istanbul Kalkinma Ajansi


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


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