Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay

Manguoglu E., Guran S., Yamac D., ŞİMŞEK M., Akdeniz S., Colak T., ...Daha Fazla

CANCER INVESTIGATION, cilt.29, sa.1, ss.73-77, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.3109/07357907.2010.512599
  • Dergi Adı: CANCER INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.73-77
  • Akdeniz Üniversitesi Adresli: Evet

Özet

In this study, MLPA assay was performed for detection of large rearrangements of BRCA1 and BRCA2 genes in 16 familial, 29 early onset, 3 male breast cancer, and 2 bilateral breast/ovarian cancer high risk Turkish index cases. MLPA assay for all exons of both genes and for 1100delC variant of CHEK2 gene were performed. Analyses, revealed no large genomic rearrangements in both genes, and, no 1100del variant in CHEK2 gene. Our data which represents the first results for Turkish patients, suggest that, the frequency of BRCA1 and BRCA2 genes' large rearrangements is very low.