Frame-shift Mutations in BRCA1 and BRCA2 genes in Turkish families with Breast and/or Ovarian Cancer

Çeçener G.

in: Advances in Genetics Research, Kevin V. Urbano, Editor, NOVA Science Publishers Inc. , New York, pp.121-128, 2010

  • Publication Type: Book Chapter / Chapter Research Book
  • Publication Date: 2010
  • Publisher: NOVA Science Publishers Inc.
  • City: New York
  • Page Numbers: pp.121-128
  • Editors: Kevin V. Urbano, Editor
  • Bursa Uludag University Affiliated: Yes


Authors:  Gulsah Cecener, Uludag University, Bursa, Turkey
It is well established that mutations in BRCA1 and BRCA2 genes significantly
increase the risk of breast and/or ovarian cancer. Notably frame-shift mutations of
BRCA1 and BRCA2 genes were linked to high risk. To date, all of studies in our country
investigated a total of 415 Turkish high-risk families for germline BRCA1 and BRCA2
mutations using a variety of screening techniques. The authors found that the rate of
germline mutations in both genes among high-risk Turkish families was approximately
10 percent, which is consistent with our finding. About eighty percent of the total
mutation rate contain frame-shift mutations. These frame-shift mutations were analyzed
29 different types. They were detected 15 in BRCA1 and 14 in BRCA2. Sixteen of these
mutations were novel in Turkish families. In analyzing Turkish high-risk families, no
founder mutations in BRCA1/BRCA2 genes were detected. One exception is the
5382insC BRCA1 gene mutation. The data from all Turkish patients with breast and/or
ovarian cancer indicate that only the 5382insC mutation occurs at a low rate ( 6/415-
about 1.45%) in Turkish patients. Yet, none of the other frame-shift mutations was
incorporated into the Turkish population. Our findings suggest that there are no
predominant frame-shift mutations in BRCA1/BRCA2 gene in Turkish high risk families.
Our contribution broadens the BRCA1/BRCA2 world mutational spectra.