RAD52 S346X变异体降低了携带BRCA2突变的个体患乳腺癌的风险。
RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers.
作者信息
Biswas Kajal, Sharan Shyam K
机构信息
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD, USA.
出版信息
Mol Oncol. 2020 Jun;14(6):1121-1123. doi: 10.1002/1878-0261.12679. Epub 2020 Apr 21.
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.
摘要
亚当森等人报告称，携带RAD52 S346X变体的BRCA2突变携带者患乳腺癌的风险降低。RAD52 S346X变体缺乏核定位序列，这会使该蛋白错误定位于细胞质并使其失去功能。BRCA2介导的同源重组DNA修复和RAD52介导的单链退火的联合缺失可能导致细胞死亡并降低乳腺癌风险。评论见：https://doi.org/10.1002/1878-0261.12665 。
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