Family information service participation increases the rates of mutation testing among members of families with BRCA1/2 mutations.

Henry T. Lynch, Carrie L. Snyder, Jane F. Lynch, Sumedha Ghate, Steven A. Narod, Gordon Gong

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Some members of hereditary breast-ovarian cancer (HBOC) families may not participate in BRCA testing to determine their mutation status in part because they are unaware of their cancer risk and the availability of BRCA testing. Participation in a family information service (FIS), of which we have provided more than 100 sessions during the past 30 years, has been seen to effectively allow family members to be educated regarding their cancer genetic risk and potential benefits from cancer control measures such as mutation testing. However, the effect of the FIS on the rate of mutation testing has not been studied. One thousand five hundred seventy-four eligible (>18-year old, at a 25% or higher pedigree risk) members from 60 extended HBOC families with BRCA1/2 mutations were invited to attend a FIS to learn about their risk and undergo genetic testing. The rates of mutation testing were compared between those who had attended an FIS, and those who had not with chi-squared test and logistic regression analysis. Seventy five percent (334/444) of FIS attendees had undergone mutation testing following or during an FIS which was significantly higher than the 33.8% (382/1130) rate among nonattendees (p <0.0001). Logistic regression analysis showed that FIS attendance, breast-ovarian cancer history, gender, and age were significant variables for undertaking a mutation test. FIS attendance significantly increased the rate of mutation testing among high-risk family members.

Original languageEnglish (US)
Pages (from-to)S20-S24
JournalThe breast journal
Volume15 Suppl 1
DOIs
StatePublished - 2009

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Surgery
  • Oncology

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