作者
Colin C Pritchard, Joaquin Mateo, Michael F Walsh, Navonil De Sarkar, Wassim Abida, Himisha Beltran, Andrea Garofalo, Roman Gulati, Suzanne Carreira, Rosalind Eeles, Olivier Elemento, Mark A Rubin, Dan Robinson, Robert Lonigro, Maha Hussain, Arul Chinnaiyan, Jake Vinson, Julie Filipenko, Levi Garraway, Mary-Ellen Taplin, Saud AlDubayan, G Celine Han, Mallory Beightol, Colm Morrissey, Belinda Nghiem, Heather H Cheng, Bruce Montgomery, Tom Walsh, Silvia Casadei, Michael Berger, Liying Zhang, Ahmet Zehir, Joseph Vijai, Howard I Scher, Charles Sawyers, Nikolaus Schultz, Philip W Kantoff, David Solit, Mark Robson, Eliezer M Van Allen, Kenneth Offit, Johann de Bono, Peter S Nelson
发表日期
2016/8/4
期刊
New England Journal of Medicine
卷号
375
期号
5
页码范围
443-453
出版商
Massachusetts Medical Society
简介
Background
Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established.
Methods
We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis. We isolated germline DNA and used multiplex sequencing assays to assess mutations in 20 DNA-repair genes associated with autosomal dominant cancer-predisposition syndromes.
Results
A total of 84 germline DNA-repair gene mutations that were presumed to be deleterious were identified in 82 men (11.8%); mutations were found in 16 …
学术搜索中的文章
CC Pritchard, J Mateo, MF Walsh, N De Sarkar… - New England Journal of Medicine, 2016