Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins

N. Ah Mew, N. Hamel, M. Galvez, M. Al-Saffar, William D. Foulkes

Research output: Contribution to journalShort surveypeer-review

14 Citations (Scopus)


At least 25% of Ashkenazi Jewish families with two or more cases of premenopausal breast cancers are attributable to one of three founder mutations in BRCA1 or BRCA2. As these three founder mutations are common in the Ashkenazi Jewish population (∼2.5%) and can easily be tested for in a multiplex assay, establishing ethnicity can expedite genetic testing. It is not always possible, however, to conclusively establish ethnicity before offering testing. We report here the occurrence of a founder Ashkenazi Jewish BRCA1 mutation, 185delAG (also known as 187delAG), in a non-Jewish Chilean family with no reported Jewish ancestry. The linked haplotype present in this family was identical to that identified in the Ashkenazi Jewish population. This case report not only illustrates the problem of the definition of ethnicity but also points to the possibility of further studies of the frequency of founder Ashkenazi Jewish mutations in populations not generally considered to be of Ashkenazi Jewish origin.

Original languageEnglish
Pages (from-to)151-156
Number of pages6
JournalClinical Genetics
Issue number2
Publication statusPublished - Aug 1 2002
Externally publishedYes


  • BRCA1
  • Chile
  • Genes
  • Haplotype
  • Jews

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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