寻找前列腺癌遗传缺失的原因。

The Search for the Missing Heritability of Prostate Cancer.

机构信息

James Buchanan Brady Urological Institute, Johns Hopkins Hospital, Baltimore, MD, USA.

出版信息

Eur Urol. 2017 Nov;72(5):657-659. doi: 10.1016/j.eururo.2017.04.003. Epub 2017 Apr 22.

DOI:10.1016/j.eururo.2017.04.003

Abstract

Scientists and clinicians at Johns Hopkins have been working since 1987 to uncover the genetic pathogenesis of prostate cancer. A patient query about the hereditary nature of the disease led to data collection on family history, followed by segregation and linkage analyses. Collaborative investigations using next-generation sequencing to identify genetic variants associated with prostate cancer risk have revealed the significance of HOXB13, BRCA 1/2, and DNA repair mutations.

摘要

自 1987 年以来，约翰霍普金斯大学的科学家和临床医生一直在努力揭示前列腺癌的遗传发病机制。患者对疾病遗传性的询问导致了家族史数据的收集，随后进行了分离和连锁分析。使用下一代测序技术进行的合作研究，以确定与前列腺癌风险相关的遗传变异，揭示了 HOXB13、BRCA1/2 和 DNA 修复突变的重要性。