Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

Özdag, H; Tez, M; Sayek, I; Müslümanoglu, M; Tarcan, O; Içli, F; Öztürk, M; Özçelik, T

« Previous Next »European Journal of Cancer
Volume 36, Issue 16 , Pages 2076-2082, October 2000

Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

H Özdag
- Department of Molecular Biology and Genetics, Bilkent University, Ankara 06533, Turkey
M Tez
- Department of Surgery, Hacettepe University Medical School, Ankara 06100, Turkey
I Sayek
- Department of Surgery, Hacettepe University Medical School, Ankara 06100, Turkey
M Müslümanoglu
- Department of Surgery, Istanbul University, Istanbul Medical School, Istanbul 34080, Turkey
O Tarcan
- Ankara Oncology Hospital, Ankara 06200, Turkey
F Içli
- Department of Medical Oncology, Ankara University Medical School, Ankara 06100, Turkey
M Öztürk
- Department of Molecular Biology and Genetics, Bilkent University, Ankara 06533, Turkey
T Özçelik
- Department of Molecular Biology and Genetics, Bilkent University, Ankara 06533, Turkey
- Corresponding author. Tel.: +90 312 266 5081; fax: +90 312 266 5097

Received 25 January 2000; received in revised form 15 May 2000; accepted 23 June 2000.

Abstract

Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A→G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population.

Keywords: Hereditary breast/ovarian cancer, BRCA1, BRCA2, Germ line mutation