Feasibility and yield of offering genetic counseling to all patients with newly diagnosed high-grade epithelial ovarian cancer.

Abstract

1509 Background: Mutations in BRCA1 and BRCA2 have been reported in 16-21% of patients with high-grade epithelial ovarian cancer (HG-EOC) unselected for family history (Risch 2001; Pal 2005; Press 2008). Given this several professional organizations (NCCN, SGO, ACOG) have stated it is reasonable to offer genetic counseling (GC) to any woman with HG-EOC if it will impact the care of her or her close family members. There has been concern, however, that this approach will not be feasible in high volume settings and that the yield of mutation carriers identified will not justify the resources required. Methods: Beginning July 2008, the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC) began offering GC to any patient with a newly diagnosed non-mucinous HG-EOC. All women who were diagnosed with, or received primary chemotherapy for, a new pathologically confirmed HG-EOC at MSKCC from 07/01/2008 through 09/30/2010 are included in this report. Patients referred for second opinion only, without treatment at MSKCC, were excluded. Results: 325 women with a new diagnosis of HG-EOC were eligible for analysis. 292 (89.8%) of these patients had a serous component in their tumor (S-EOC). 173 of 292 (59.2%) with S-EOC had a GC referral mentioned in the medical record, and 154 (52.7%) have completed (137) or pending (17) GC appointments. Of the 137 patients with completed GC appointments, 130 (94.9%) elected testing for mutations in BRCA1and BRCA2. Of the 126 patients with results available, 38 (30.2%) had a deleterious BRCA mutation detected [28 BRCA1 (22.2%); 10 BRCA2 (7.9%)]. When the cohort was stratified by Ashkenazi Jewish (AJ) heritage, 22 of 54 (40.7%) women with at least one AJ grandparent had a deleterious mutation. Of the patients with no AJ heritage, 16 of 72 (22.2%) had a deleterious mutation identified. Conclusions: Our data demonstrate that it is feasible to offer GC to all patients with HG-EOC and that the yield of mutations identified supports current recommendations that it is reasonable to consider genetic testing in any woman with HG-EOC that has a serous component.