BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.
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.
['Cecener|Gulsah|G|', 'Egeli|Unal|U|', 'Tunca|Berrin|B|', 'Erturk|Elif|E|', 'Ak|Secil|S|', 'Gokgoz|Sehsuvar|S|', 'Tasdelen|Ismet|I|', 'Tezcan|Gulcin|G|', 'Demirdogen|Elif|E|', 'Bayram|Nuran|N|', 'Avci|Nilufer|N|', 'Evrensel|Turkkan|T|']
D000328:Adult D000368:Aged D019313:BRCA1 Protein D024682:BRCA2 Protein D001943:Breast Neoplasms 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
Breast cancer A-GVGD BRCA1/ BRCA2 gene BRCAPRO HSF