BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast-ovari an cancer syndrome. In Finland, 20 different BRCA1/2 mutations have been id entified, and 13 of them are founder mutations that account for the vast ma jority of Finnish BRCA1/2 families. The purpose of our study was to determi ne the prevalence of BRCA1/2 mutations in unselected Finnish ovarian carcin oma patients and to evaluate the relationship between mutation carrier stat us and personal/family history of cancer. Two hundred and thirty-three pati ents were screened for all the 20 BRCA1/2 mutations known in the Finnish po pulation. Additionally, a subgroup of patients with personal history of bre ast cancer and/or family history of breast and/or ovarian cancer was screen ed for novel BRCA1/2 mutations. Thirteen patients (5.6%) had mutations: ele ven in BRCA1 and two in BRCA2. All the mutation-positive patients were carr iers of the previously known Finnish BRCA1/2 mutations, and seven recurrent founder mutations accounted for 12 of the 13 mutations detected. A logisti c regression analysis was used to determine the odds of mutation for ovaria n carcinoma patients. The most significant predictor of a mutation was the presence of both breast and ovarian cancer in the same woman, but:family hi story of breast cancer was also strongly related to mutation carrier status . Although BRCA1/2 mutation testing is not warranted in the general Finnish ovarian cancer patient population, patients who have also been diagnosed w ith breast cancer or have family history of breast or breast and ovarian ca ncer could benefit from referral to genetic counselling and mutation testin g.