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 | |
| 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 |
|---|
| Istanbul Teknik Üniversitesi |
| Istanbul Kalkinma Ajansi |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
-
SDG 3 Good Health and Well-being
Keywords
- ATM
- BRCA1/2
- early-onset breast cancer
- genetics
- multi-gene panel testing
- oncology
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