Screening for 185delAG in the Ashkenazim

C. Sue Richards, Patricia A. Ward, Benjamin B. Roa, Lois C. Friedman, Alfred A. Boyd, Gretchen Kuenzli, J. Kay Dunn, Sharon E. Plon

Research output: Contribution to journalArticlepeer-review

45 Scopus citations


A study was initiated to assess interest, educational effectiveness, and implications of genetic testing for the common BRCA1 mutation, 185delAG, in the Ashkenazim. Of 333 individuals who attended group sessions, 309 (92%) participated in the study. Participants were categorized as having negative family history (67%), positive family history (defined, by a relaxed criterion, as one first-degree relative or two second-degree relatives with breast [premenopausal] or ovarian cancer) (22%), positive personal history (7%), and both positive personal history and positive family history (4%). Group education was effective, as shown by the improvement in participant scores from pre- to posteducation tests. For the 289 individuals (94%) who requested testing, the major reasons included concern for their own risk, concern for the risk of their children, and desire to learn about surveillance options. The most common reason given by participants who declined testing was concern about health insurance. Six participants found to be heterozygous for the 185delAG mutation received results and were offered genetic counseling. Participants had consented for additional testing without receiving results and were screened for the 6174delT mutation in BRCA2, and seven were found to be positive. All identified carriers reported at least one first- or second-degree relative with a history of breast or ovarian cancer, although they did not all meet our study criteria for positive family history. Given these outcomes, we conclude that screening for breast and ovarian cancer susceptibility is most appropriate for individuals with a positive personal or positive family cancer history. We propose a guideline for future studies designed to identify individuals who may benefit from genetic testing for inherited breast and ovarian cancer.

Original languageEnglish (US)
Pages (from-to)1085-1098
Number of pages14
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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