Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer

Yazici H., Kilic S., Akdeniz D., Sukruoglu Ö., Tuncer Ş. B., Avsar M., ...More

EUROPEAN JOURNAL OF BREAST HEALTH, vol.14, no.2, pp.93-99, 2018 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.5152/ejbh.2017.3799
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.93-99
  • Keywords: High-risk breast and ovarian carcinoma, BRCA1 and BRCA2 genes, rearrangements, Turkish population, GENOMIC REARRANGEMENTS, BREAST/OVARIAN CANCER, FAMILIAL BREAST, IDENTIFICATION, SPECTRUM, CHEK2
  • Istanbul University Affiliated: Yes


Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey.