High Prevalence of the 999 del 5 Mutation in Icelandic Breast and Ovarian Cancer Patients 1

Studies on Icelandic breast cancer families have shown that most of them segregate a 999del5 BRCA2 mutation. Here, we report the frequency of the 999del5 BRCA2 mutation in an Icelandic control population and four different groups of cancer patients diagnosed with (a) breast cancer; (In ovarian cancer; ir) prostate cancer (patients younger than 65 years); and u/) other cancer types. The proportions of individuals carrying the mutation were 0.4% in the control population and in the patient groups 8.5%, 7.9%, 2.7%, and 1.0%, respectively. Our results indicate that BRCA2 confers a very high risk of breast cancer and is responsible for a substantial fraction of breast and ovarian cancer in Iceland, but only a small proportion of other cancers.

[1]  D. Easton,et al.  Genetic Linkage Analysis in Familial Breast and Ovarian Cancer: Results from 214 Families , 2006 .

[2]  J. Eyfjörd,et al.  A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes , 1996, Nature Genetics.

[3]  J. Gudmundsson,et al.  Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. , 1996, American journal of human genetics.

[4]  Julian Peto,et al.  Identification of the breast cancer susceptibility gene BRCA2 , 1996, Nature.

[5]  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.

[6]  Barbara L. Smith,et al.  Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. , 1996, The New England journal of medicine.

[7]  J. Gudmundsson,et al.  Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. , 1995, Cancer research.

[8]  F. Collins,et al.  The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals , 1995, Nature Genetics.

[9]  A. Jonasdottir,et al.  Chromosome 17q-linkage seems to be infrequent in Icelandic families at risk of breast cancer. , 1995, Acta oncologica.

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

[11]  M. Slattery,et al.  A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database. , 1993, JAMA.

[12]  J. Manson,et al.  Family history, age, and risk of breast cancer. Prospective data from the Nurses' Health Study. , 1993, JAMA.

[13]  R. Barkardottir,et al.  Linkage analysis of chromosome 17q markers and breast-ovarian cancer in Icelandic families, and possible relationship to prostatic cancer. , 1993, American journal of human genetics.

[14]  L. Tryggvadottir,et al.  Epidemiology of breast cancer in families in Iceland. , 1992, Journal of medical genetics.

[15]  N Risch,et al.  Genetic analysis of breast cancer in the cancer and steroid hormone study. , 1991, American journal of human genetics.