BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.

Çeçener G., Egeli Ü., Tunca B., Ertürk E., Ak S., Gokgoz S., ...More

Cancer investigation, vol.32, no.8, pp.375-87, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 8
  • Publication Date: 2014
  • Doi Number: 10.3109/07357907.2014.919302
  • Journal Name: Cancer investigation
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.375-87
  • Keywords: Breast cancer, BRCA1/BRCA2 gene, A-GVGD, HSF, BRCAPRO, AND/OR OVARIAN-CANCER, FOUNDER MUTATIONS, GENE-MUTATIONS, FAMILIES, WOMEN, POPULATION, FREQUENCY, 185DELAG, PENETRANCE, PREVALENCE
  • Bursa Uludag University Affiliated: Yes

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.