Özdağ, Hilal2016-01-082016-01-082000http://hdl.handle.net/11693/18576Ankara : The Department of Molecular Biology and Genetics and the Institute of Engineering and Science of Bilkent Univ., 2000.Thesis (Ph.D.) -- Bilkent University, 2000.Includes bibliographical references leaves 149-165.Breast cancer is the most frequent cancer type and the second cause of death among women. It is estimated that 10 to 15% of breast cancer cases are hereditary. The majority of hereditary breast cancers can be attributed to germ-line mutations in ^Jgeast CAncer susceptibility genes BRCAl and BRCA2. In this study, germ-line BRCAl and/or BRCA2 gene mutations were screened in 50 Turkish breast and/or ovarian cancer patients divided into four groups of hereditary, familial, early onset, and male cancer by heteroduplex analysis and DNA sequencing. Two BRCA2 mutations, one novel (6880insG) and one previously reported (3034delAAAC), were found in the hereditary group. A novel BRCAl (1200insA) mutation was formd in the early onset group. All three mutations cause premature- termination codons. In addition, five BRCAl sequence variants have been identified in 23 patients. K654E (2080 A—>G), D693N (2196 G->A), P871L (2731 C—>T), and K1183R (3667 A—>G) result in a change of amino acids. 1013 T—^>C and 2201 C—>T are silent mutations. One patient in the early onset group was compound heterozygote for K654E and D693N. These results indicate that BRCAl and BRCA2 genes are involved in some but not all hereditary breast cancers in the Turkish population.xiv, 212 leavesEnglishinfo:eu-repo/semantics/openAccessWP870 .O93 2000Breast--Cancer--Genetic aspects.Breast Neoplasms--Genetics.Breast Neoplasms--Familial and genetics.Thesis