Germline BRCA2 mutation in a case of aggressive prostate cancer accompanied by spinal bulbar muscular atrophy

• 作者: Hiroshi Hongo Takeo Kosaka Hideyuki Hayashi Kohei Nakamura Hiroshi Nishihara Shuji Mikami Himisha Beltran Mototsugu Oya
• 来源期刊: 亚洲男性学杂志（英文版）
• 年，卷（期）: 2022,（1）
• 所属期刊栏目: LETTER TO THE EDITOR
• 页码范围: 116-118
• 页数: 3页
• 语种: 英文
• DOI: 10.4103/aja.aja_37_21

摘要

Dear Editor, Spinal and bulbar muscular atrophy(SBMA)or Kennedy's disease is a rare X-linked,recessive,lower motor neuron disease caused by a CAG repeat expansion within the first exon of the androgen receptor(AR)gene.Instability of the CAG-triplet repeat impacts AR function;therefore,men with SBMA are thought to be at a very low risk of prostate cancer.We previously reported a case of high-risk prostate cancer with SBMA(repeat length 46).1 Here,we present the follow-up of this patient along with investigation of his genetic background.