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

Yazici, Hülya; Kilic, Seda; Akdeniz, Demet; Sukruoglu, Özge; Tuncer, Şeref; Avsar, Mukaddes; Kuru, Gozde; Celik, Betül; Kucucuk, Seden; Saip, Pinar

doi:10.5152/ejbh.2017.3799

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

Atıf İçin Kopyala

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

EUROPEAN JOURNAL OF BREAST HEALTH, cilt.14, sa.2, ss.93-99, 2018 (ESCI)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 14 Sayı: 2
Basım Tarihi: 2018
Doi Numarası: 10.5152/ejbh.2017.3799
Dergi Adı: EUROPEAN JOURNAL OF BREAST HEALTH
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.93-99
Anahtar Kelimeler: High-risk breast and ovarian carcinoma, BRCA1 and BRCA2 genes, rearrangements, Turkish population, GENOMIC REARRANGEMENTS, BREAST/OVARIAN CANCER, FAMILIAL BREAST, IDENTIFICATION, SPECTRUM, CHEK2
İstanbul Üniversitesi Adresli: Evet

Özet

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.