[HTML][HTML] Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

KN Maxwell, B Wubbenhorst, K D'Andrea, B Garman… - Genetics in …, 2015 - Elsevier
Purpose Clinical testing for germ-line variation in multiple cancer susceptibility genes is
available using massively parallel sequencing. Limited information is available for pretest
genetic counseling regarding the spectrum of mutations and variants of uncertain
significance in defined patient populations. Methods We performed massively parallel
sequencing using targeted capture of 22 cancer susceptibility genes in 278 BRCA1/2-
negative patients with early-onset breast cancer (diagnosed at younger than 40 years of …