This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Mæhle, L. Articles by Møller, P. Search for Related Content PubMed PubMed Citation Articles by Mæhle, L. Articles by Møller, P.

High Risk for Ovarian Cancer in a Prospective Series Is Restricted to BRCA1/2 Mutation Carriers

Authors' Affiliations: ¹ Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet University Hospital, ² Department of Gynaecology, Ullevål University Hospital, and ³ The Cancer Registry of Norway, Montebello, Oslo, Norway; ⁴ Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, and Institute of Clinical Medicine, University of Bergen, Bergen, Norway; ⁵ Department of Gynaecology, St. Olav's Hospital, Trondheim University Hospital, Trondheim, Norway; ⁶ Department of Gynaecology and Obstetrics, Stavanger University Hospital, Stavanger, Norway; and ⁷ Department of Medical Genetics, University Hospital of North-Norway, Tromsø, Norway

Requests for reprints: Pål Møller, Rikshospitalet University Hospital, 0027 Oslo, Norway. Phone: 47-2293-5675; Fax: 47-2293-5219; E-mail: pmoller{at}ulrik.uio.no.

Purpose: Inherited ovarian cancer carries a serious prognosis. Prophylactic oophorectomy has been advocated. The degree to which inherited ovarian cancer is restricted to BRCA mutation carriers is not fully known. We wanted to determine the prevalence of BRCA mutation carriers in women at high risk from ovarian cancer.

Experimental Design: Healthy women who were found to be at increased risk judged by family history were followed prospectively. Full BRCA1/2 mutation analysis was conducted on all patients who contracted pelvic cancer.

Results: We identified 1,582 women at risk during 5,674 person-years. Forty infiltrating epithelial ovarian cancers, six peritoneal cancers, and one fallopian tube cancer were diagnosed. All but one of these patients (98%) had a BRCA mutation, a frequency that was significantly higher than for the 3 patients with borderline ovarian cancers, who were all mutation negative (P = 0.0002). Eighty-two percent of the detected mutations belonged to one of the 10 Norwegian founder mutations previously reported. At prophylactic bilateral salpingo-oophorectomy, cancer was found in 18 of 345 (5.2%) of mutation carriers compared with none in the 446 mutation negative (P = 0.0000).

Conclusions: In healthy women with a family history of ovarian cancer, high risk for ovarian cancer was restricted to BRCA1/2 mutation carriers. A woman at risk for ovarian cancer according to her family history should have access to full BRCA1/2 mutation testing before deciding on prophylactic bilateral salpingo-oophorectomy.