Analysis of BRCA1 and BRCA2 genes in Turkish breast cancer patients

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buir.advisorÖzçelik, Tayfun
dc.contributor.authorÖzdağ, Hilal
dc.date.accessioned2016-01-08T20:20:33Z
dc.date.available2016-01-08T20:20:33Z
dc.date.issued2000
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.descriptionAnkara : The Department of Molecular Biology and Genetics and the Institute of Engineering and Science of Bilkent Univ., 2000.en_US
dc.descriptionThesis (Ph.D.) -- Bilkent University, 2000.en_US
dc.descriptionIncludes bibliographical references leaves 149-165.en_US
dc.description.abstractBreast 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.en_US
dc.description.degreePh.D.en_US
dc.description.statementofresponsibilityÖzdağ, Hilalen_US
dc.format.extentxiv, 212 leavesen_US
dc.identifier.urihttp://hdl.handle.net/11693/18576
dc.language.isoEnglishen_US
dc.publisherBilkent Universityen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject.lccWP870 .O93 2000en_US
dc.subject.lcshBreast--Cancer--Genetic aspects.en_US
dc.subject.lcshBreast Neoplasms--Genetics.en_US
dc.subject.lcshBreast Neoplasms--Familial and genetics.en_US
dc.titleAnalysis of BRCA1 and BRCA2 genes in Turkish breast cancer patientsen_US
dc.typeThesisen_US

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