title: BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.
abstract: BRCA1/BRCA2 genes were screened in 117 patients with breast cancer by sequencing. Fourteen percent of patients tested positive for BRCA1/BRCA2 mutations. Four frame shift mutations, four pathogenic missense mutations, and 25 different sequence variations were detected. BRCA mutation positivity was significantly associated with Ki67 (p = .001). BRCA protein expressions were decreased in the patients harboring important mutations and polymorphisms (BRCA1;P508 stop, V1740G, Q1182R, Q1756P and BRCA2;V2466A) related with disease. Our findings contribute significantly to the types of germline BRCA1/BRCA2 mutations and their biological effects in Turkish women. These data could help guide the management of BRCA1/BRCA2 mutation-carrying patients when considering breast-conserving therapy.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, University of Uludag, Turkey,1.
authors.forename: Gulsah
authors.initials: G
authors.lastname: Cecener
authors.forename: Unal
authors.initials: U
authors.lastname: Egeli
authors.forename: Berrin
authors.initials: B
authors.lastname: Tunca
authors.forename: Elif
authors.initials: E
authors.lastname: Erturk
authors.forename: Secil
authors.initials: S
authors.lastname: Ak
authors.forename: Sehsuvar
authors.initials: S
authors.lastname: Gokgoz
authors.forename: Ismet
authors.initials: I
authors.lastname: Tasdelen
authors.forename: Gulcin
authors.initials: G
authors.lastname: Tezcan
authors.forename: Elif
authors.initials: E
authors.lastname: Demirdogen
authors.forename: Nuran
authors.initials: N
authors.lastname: Bayram
authors.forename: Nilufer
authors.initials: N
authors.lastname: Avci
authors.forename: Turkkan
authors.initials: T
authors.lastname: Evrensel
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D014421:Turkey; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein
keywords: A-GVGD; BRCA1/ BRCA2 gene; BRCAPRO; Breast cancer; HSF