期刊
MOLECULAR ONCOLOGY
卷 14, 期 6, 页码 1121-1123出版社
WILEY
DOI: 10.1002/1878-0261.12679
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资金
- Intramural Research Program, Center for Cancer Research, NCI, US National Institutes of Health
- NATIONAL CANCER INSTITUTE [ZIABC011181, ZIABC010387, ZIABC011311] Funding Source: NIH RePORTER
Adamson et al. report that BRCA2 mutation carriers inheriting RAD52 S346X variant have reduced breast cancer risk. The RAD52 S346X variant lacks the nuclear localization sequence, which mislocalizes the protein to the cytoplasm and renders it nonfunctional. Combined loss of BRCA2-mediated DNA repair by homologous recombination and RAD52-mediated single-strand annealing may result in cell death and reduce breast cancer risk.
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