Frequency of germline PALB2 mutations among women with epithelial ovarian cancer

AbstractRecent studies suggest that mutations in the partner and localizer ofBRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance ofPALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations inPALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute ’s Exome Sequencing Project dataset. Clinical information was obtained from medical records and survival status was determined by linkage.PALB2 coding exons were sequenced using next generation sequencing technology. Of the 1421 patients, three (0.21  %) had a germlinePALB2 mutation compared to two of the 4300 control subjects (0.05  %). The mean age at diagnosis was 59 years (range 55–62) and all three women died within 2 years of diagnosis. APALB2 mutation was associated with a four-fold, albeit not significant, increased risk of ovarian cancer (OR  = 4.55; 95 % CI 0.76–27.24;P = 0.10). These results suggest that germlinePALB2 mutations are rare. The true effect of such mutations on ovarian cancer risk require further study before the clinical relevance of inheritedPALB2 mutations is established.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research