학술논문
BRCA1/2 Germline Mutations and Their Clinical Importance in Turkish Breast Cancer Patients.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*BREAST cancer patients
*NUCLEOTIDE sequence
*PROTEIN expression
*BIOLOGICAL variation
*GENETIC polymorphisms
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Language
ISSN
0735-7907
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;P508stop, 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. [ABSTRACT FROM AUTHOR]