title: Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients.
abstract: Distribution and prevalence of germline mutations in BRCA1 and BRCA2 differ among different populations. For the Turkish population, several studies have addressed high-risk breast cancer and ovarian cancer (BC-OC) patients. In most studies, both genes were analyzed in part, and a quite heterogeneous mutation spectrum was observed. For high-risk Turkish prostate cancer (PCa) patients, however, there are no data available about mutations of germline BRCA genes. To accurately determine the contribution of germline mutations in BRCA1 and BRCA2 in Turkish BC, OC, and PCa high-risk patients, 106 high-risk BC-OC patients, 50 high-risk PCa patients, and 50 control subjects were recruited. The study represents the only full screening, to date, of a large series of Turkish high-risk BC-OC patients and the only study in Turkish high-risk PCa patients. Mutation screenings were performed on coding exons of both genes with either denaturing gradient gel electrophoresis or denaturing high performance liquid chromatography, or with both techniques. Three deleterious mutations in BRCA1 and three deleterious mutations in BRCA2 were detected in different BC-OC patients, and one truncating mutation was detected in a high-risk PCa patient. In addition, 28 different unclassified and mostly novel variants were detected in both genes, as well as several silent polymorphisms. These findings reflect the genetic heterogeneity of the Turkish population and are relevant to genetic counseling and clinical management.
authors.affiliation: Faculty of Medicine, Department of Medical Biology and Genetics, Akdeniz University, Antalya 07070, Turkey. emanguoglu@akdeniz.edu.tr
authors.forename: Esra
authors.initials: E
authors.lastname: Manguoğlu
authors.forename: Sefik
authors.initials: S
authors.lastname: Güran
authors.forename: Deniz
authors.initials: D
authors.lastname: Yamaç
authors.forename: Taner
authors.initials: T
authors.lastname: Colak
authors.forename: Mehmet
authors.initials: M
authors.lastname: Simşek
authors.forename: Mehmet
authors.initials: M
authors.lastname: Baykara
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akaydın
authors.forename: Güven
authors.initials: G
authors.lastname: Lüleci
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004586:Electrophoresis / Q000379:methods; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010051:Ovarian Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D011471:Prostatic Neoplasms / Q000235:genetics*; D012306:Risk; D014421:Turkey