BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients

To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. © 2000 Cancer Research Campaign

[1]  G. Giles,et al.  BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer , 1999, British Journal of Cancer.

[2]  J Chang-Claude,et al.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. , 1998, American journal of human genetics.

[3]  S. Baig,et al.  Molecular and population genetic analyses of β‐Thalassemia in Turkey , 1998 .

[4]  F. Couch,et al.  BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. , 1997, The New England journal of medicine.

[5]  B. Ponder,et al.  Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. , 1997, American journal of human genetics.

[6]  M. King,et al.  Population genetics of BRCA1 and BRCA2. , 1997, American journal of human genetics.

[7]  Steven Gallinger,et al.  Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients , 1997, Nature Genetics.

[8]  B. Weber,et al.  Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. , 1997, American journal of human genetics.

[9]  Å. Borg,et al.  Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. , 1997, American journal of human genetics.

[10]  I. Lerer,et al.  The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. , 1997, American journal of human genetics.

[11]  D. Easton,et al.  High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. , 1996, Cancer research.

[12]  D. B. Berman,et al.  A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. , 1996, Cancer research.

[13]  I. Andrulis,et al.  Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation , 1996, Human Genetics.

[14]  Kenneth Offit,et al.  Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer , 1996, Nature Genetics.

[15]  J. Rommens,et al.  The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds , 1996, Nature Genetics.

[16]  J. D. Thompson,et al.  BRCA1 mutations in a population-based sample of young women with breast cancer. , 1996, The New England journal of medicine.

[17]  D. Bentley,et al.  Identification of the breast cancer susceptibility gene BRCA2 , 1995, Nature.

[18]  M. King,et al.  Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. , 1995, American journal of human genetics.

[19]  J. Rommens,et al.  Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families , 1994, Nature Genetics.

[20]  Steven E. Bayer,et al.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.

[21]  D. Easton,et al.  Risks of cancer in BRCA1-mutation carriers , 1994, The Lancet.

[22]  D. Easton,et al.  Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. , 1993, American journal of human genetics.

[23]  A. Stengrēvics,et al.  Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia , 1999, Human mutation.

[24]  H. Ozçelik,et al.  Molecular and population genetic analyses of beta-thalassemia in Turkey. , 1998, American journal of hematology.

[25]  C. Larsson,et al.  Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families , 1996, Nature Genetics.

[26]  F. Couch,et al.  Mutations and Polymorphisms in the familial early‐onset breast cancer (BRCA1) gene , 1996, Human mutation.