To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations

Nancie Petrucelli*, Sarah Mange, Jennifer L. Fulbright, Lindsay Dohany, Dana Zakalik, Debra Duquette

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


This study determined the prevalence of non-Ashkenazi Jewish BRCA1/2 mutations in the Ashkenazi Jewish population in the state of Michigan, current provider testing practices, and the use of mutation probability models in determining which Ashkenazi Jewish individuals should be offered further analysis following negative BRCA1/2 founder testing. Testing patterns, mutation probabilities, and testing results were assessed for 327 Ashkenazi Jewish individuals seen for BRCA1/2 counseling in the state of Michigan who underwent testing for the Ashkenazi Jewish founder mutations. Only one (0.6 %) Ashkenazi Jewish individual with sequencing after negative founder analysis was found to have a non-founder mutation; no rearrangements were identified. Testing patterns varied by clinic, with the proportion of Ashkenazi Jewish individuals undergoing additional sequencing ranging from 22.2 to 92.9 %. In Ashkenazi Jewish individuals with a pre-test BRCAPRO risk calculation, the mean risk was significantly higher in those with follow-up sequencing compared to those who did not pursue additional testing. The low prevalence of non-founder BRCA1/2 mutations in Ashkenazi Jewish individuals does not warrant automatically reflexing to full analysis after negative mutation testing. Increased use of mutation probability models may aid in determining which cases warrant additional testing.

Original languageEnglish (US)
Pages (from-to)285-293
Number of pages9
JournalJournal of Genetic Counseling
Issue number2
StatePublished - Apr 2015


  • Ashkenazi Jewish
  • BRCA1/2
  • Large rearrangement analysis
  • Sequencing

ASJC Scopus subject areas

  • Genetics(clinical)


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