期刊
FAMILIAL CANCER
卷 14, 期 2, 页码 337-340出版社
SPRINGER
DOI: 10.1007/s10689-015-9781-4
关键词
Germline mutation; RAD51B; Melanoma; Cancer predisposition gene
资金
- Rigshospitalet
- Aase and Ejnar Danielsens fond
- Danish Medical Association Research Fund
- Australia and New Zealand Banking Group Limited Trustees
- National Health and Medical Research Council of Australia
Known melanoma predisposition genes only account for around 40 % of high-density melanoma families. Other rare mutations are likely to play a role in melanoma predisposition. RAD51B plays an important role in DNA repair through homologous recombination, and inactivation of RAD51B has been implicated in tumorigenesis. Thus RAD51B is a good candidate melanoma susceptibility gene, and previously, a germline splicing mutation in RAD51B has been identified in a family with early-onset breast cancer. In order to find genetic variants associated with melanoma predisposition, whole-exome sequencing was carried out on blood samples from a three-case cutaneous melanoma family. We identified a novel germline RAD51B nonsense mutation, and we demonstrate reduced expression of RAD51B in melanoma cells indicating inactivation of RAD51B. This is only the second report of a germline truncating RAD51B mutation. While this case report is consistent with melanoma being part of the RAD51B cancer spectrum further population-based screening of large case-control sample series will be needed to definitively establish if this is the case.
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