RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers
- PMID: 32255263
- PMCID: PMC7266267
- DOI: 10.1002/1878-0261.12679
RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers
Abstract
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. Comment on: https://doi.org/10.1002/1878-0261.12665.
Published 2020. This article is a U.S. Government work and is in the public domain in the USA.
Conflict of interest statement
The authors declare no conflict of interest.
Comment on
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The RAD52 S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.Mol Oncol. 2020 Jun;14(6):1124-1133. doi: 10.1002/1878-0261.12665. Epub 2020 Apr 25. Mol Oncol. 2020. PMID: 32175645 Free PMC article.
References
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- Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, Neuhausen SL, Struewing JP, Stoppa‐Lyonnet D, Barjhoux L, Hughes DJ et al (2007) RAD51 135G–>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81, 1186–1200. - PMC - PubMed
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- Bhowmick R, Minocherhomji S and Hickson ID (2016) RAD52 facilitates mitotic DNA synthesis following replication stress. Mol Cell 64, 1117–1126. - PubMed
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