<i>BRCA1/2</i> Germline Mutations and Their Clinical Importance in Turkish Breast Cancer Patients

ÇEÇENER G., EGELİ Ü., TUNCA B., ERTÜRK BAKIR E., AKSOY S., Gokgoz S., ...Daha Fazla

CANCER INVESTIGATION, cilt.32, sa.8, ss.375-387, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 8
  • Basım Tarihi: 2014
  • Doi Numarası: 10.3109/07357907.2014.919302
  • Dergi Adı: CANCER INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.375-387
  • Anahtar Kelimeler: 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 Uludağ Üniversitesi Adresli: Evet

Özet

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.