000181: BRCA1/BRCA2 MUTATIONS IN PRIMARY OVARIAN CANCER PATIENTS

• Published in: International journal of gynecological cancer Vol. 15; no. Suppl 2; p. 102
• Main Authors: Aktas, B., Gultekin, M., Aksan, G., Tulunay, G., Ilhan, A.K., Alikasifoglu, M., Kose, F., Yuce, K., Tuncbilek, E., Ayhan, A.
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Inc 01.09.2005; Elsevier Limited
• Subjects: Ovarian cancer
• ISSN: 1048-891X; 1525-1438
• DOI: 10.1136/ijgc-00009577-200509001-00177

Objective: Individuals carrying inactivating germline mutations in the breast and ovarian cancer susceptibility gene BRCA1 and BRCA2 have an increased risk of developing cancer. Germline mutations of the two genes are transmitted in the autosomal dominant fachion and predispose carriers to the development of ovarian and/or breast cancer. Methods: We have screened 176 women with primary ovarian cancer for mutations in BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) gene in using mutagenically separated PCR, single strand confirmation polymorphism (SSCP) analysis followed by sequencing of variant bands. Results: Three germlime alterations were identified: A frameshift mutation (5382insC) was observed in two ovarian cancer patients with familial cancer history. A unique amino acid substitution in exon 20 (G1748S) was seen in two patients and a splice site variant (IVS20 1 5A.T) was deteceted in a patient with ovarian cancer. Moreover, a complex alteration (IVS20 1 5A.T and G1748S) was also noted in two patients. However, 185delAG and 6174delT mutations were not observed in ovarian cancer subjects. Conclusion: Our preliminary results indicate that BRCA1 gene are involved in some ovarian cancer patients, both with and without a family history, demonstrating the importance of BRCA1/BRCA2 in the development of ovarian cancer patients in Turkish population.