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A Novel BRCA2 Mutation in Prostate Cancer Sensitive to Combined Radiotherapy and Androgen Deprivation Therapy
Cancer Biology & Therapy
  • Qiuli Liu
  • Dali Tong
  • Gaolei Liu
  • Yuting Yi
  • Jing Xu
  • Xingxia Yang
  • Linang Wang
  • Jun Zhang
  • Jin Ye
  • Yao Zhang
  • Gang Yuan
  • Peng Wang
  • Rongrong Chen
  • Yanfang Guan
  • Xin Yi
  • Dianzheng Zhang, Philadelphia College of Osteopathic Medicine
  • Jun Jiang
Document Type
Article
Publication Date
3-26-2018
Abstract

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.

PubMed ID
29580149
Comments

This article was published in Cancer Biology & Therapy, Pages 1-25.

The published version is available at https://doi.org/10.1080/15384047.2018.1451278.

Copyright © 2018.

Citation Information
Qiuli Liu, Dali Tong, Gaolei Liu, Yuting Yi, et al.. "A Novel BRCA2 Mutation in Prostate Cancer Sensitive to Combined Radiotherapy and Androgen Deprivation Therapy" Cancer Biology & Therapy (2018) p. 1 - 25
Available at: http://works.bepress.com/dianzheng_zhang/60/