ovarian cancer in a family with coexistence of germline nf1 and brca1 mutations case report

1. Abstract This report describes an individual affected by neurofibromatosis type 1 (NF1) and hereditary ovarian cancer, diagnosed with germline NF1 and BRCA1mutations. The proband was a 37-year-old woman with symptoms typical for NF1, who developed ovarian adenocarcinoma serosum at 35 years of age. Another two malignant tumors, including carcinoma of the papilla of Vater and colorectal cancer were diagnosed in the proband’s relatives. Molecular analysis revealed the presence of two germline mutations: c.181T>G in BRCA1 and c.2082del in NF1genes in all affected family members. In the current report, we confirm a transmission without recombination of these two closely located genes. Double mutation-positive individuals with BRCA1 and a second independent mutation in a cancer-associated gene should be very carefully screened for different types of cancer, not only breast and ovarian cancers. 2. Keywords: BRCA1 ; NF1; Ovarian Cancer; Mutation