A family with three germline mutations in BRCA1 and BRCA2

Alexander Liede, Kelly Metcalfe, Kenneth Offit, Karen Brown, Shari Miller, Steven A. Narod, Roxana Moslehi

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Several cancer genetics centres offer testing for specific BRCA1 and BRCA2 mutations to Ashkenazi Jewish individuals with a family history of breast and ovarian cancers. Testing involves screening for three common mutations found in this population, namely BRCA1 185delAG, 5382insC and BRCA2 6174delT. We have identified a large Ashkenazi Jewish kindred (W9170) with ten cases of breast cancer and four cases of ovarian carcinoma. Initially, mutation analysis for this family identified a BRCA1 185delAG mutation in the proband diagnosed with three separate primary cancers of the breast, ovary and colon. Another individual in this family diagnosed with two primary cancers of the ovary and breast, was identified as having a second mutation, BRCA1 5382insC. Subsequent work found that two sisters (cousins of the proband), both diagnosed with carcinoma of the breast, had a third mutation, BRCA2, 6174delT. These three mutations have previously been found to be more common in the Ashkenazi Jewish population. The identification of all three mutations in one family, raised new implications for the manner in which testing and counselling should be offered. In our opinion, Ashkenazi Jewish individuals in breast-ovarian cancer families should be offered complete testing for the three common Ashkenazi Jewish mutations regardless of previous identification of one of these mutations in the family.

Original languageEnglish
Pages (from-to)215-218
Number of pages4
JournalClinical Genetics
Issue number3
StatePublished - Sep 1998
Externally publishedYes


  • Ashkenazi Jewish
  • BRCA1
  • BRCA2
  • Breast cancer
  • Cancer genetics
  • Genetic counselling
  • Hereditary cancer
  • Ovarian cancer


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