%0 Journal Article
%T A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy
%A Dali Tong
%A Dianzheng Zhang
%A Gang Yuan
%A Gaolei Liu
%A Jin Ye
%A Jing Xu
%A Jun Jiang
%A Jun Zhang
%A Linang Wang
%A Peng Wang
%A Qiuli Liu
%A Rongrong Chen
%A Xin Yi
%A Xingxia Yang
%A Yanfang Guan
%A Yao Zhang
%A Yuting Yi
%J Archive of "Cancer Biology & Therapy".
%D 2018
%R 10.1080/15384047.2018.1451278
%X Genetic factors contribute to more than 40% of prostate cancer risk, and mutations in BRCA1 and BRCA2 are well-established risk factors. By using target capture-based deep sequencing to identify potential pathogenic germline mutations, followed by Sanger sequencing to determine the loci of the mutations, we identified a novel pathogenic BRCA2 mutation caused by a cytosine-to-guanine base substitution at position 4211, resulting in protein truncation (p.Ser1404Ter), which was confirmed by immunohistochemistry. Analysis of peripheral blood also identified benign polymorphisms in BRCA2 (c.7397T>C, p.Val2466Ala) and SRD5A2 (c.87G>C, p.Lys29Asn). Analysis of tumor tissues revealed seven somatic mutations in prostate tumor tissue and nine somatic mutations in esophageal squamous carcinoma tissue (single nucleotide polymorphisms, insertions, and deletions). Five-year follow-up results indicate that ADT combined with radiotherapy successfully treated the prostate cancer. To our knowledge, we are the first to report the germline BRCA2 mutation c.4211C>G (p.Ser1404Ter) in prostate cancer. Combined ADT and radiotherapy may be effective in treating other patients with prostate cancer caused by this or similar mutations
%K BRCA2
%K prostate cancer
%K radiotherapy
%K androgen deprivation therapy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6067857/