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 |
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Pages (from-to) | 1751-1755 |
Number of pages | 5 |
Journal | Clinical Case Reports |
Volume | 6 |
Issue number | 9 |
DOIs | |
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 |
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Istanbul Teknik Üniversitesi | |
Istanbul Kalkinma Ajansi |
Keywords
- ATM
- BRCA1/2
- early-onset breast cancer
- genetics
- multi-gene panel testing
- oncology