Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec

Eur J Hum Genet. 2011 May;19(5):494-9. doi: 10.1038/ejhg.2010.227. Epub 2011 Jan 19.

Abstract

We described and compared breast and ovarian screening practices in the 2-year period following test result disclosure in female non-carriers from BRCA1/2 mutation-positive families living in two countries, France and Quebec, Canada, which provide universal health care. Four hundred and two (France n=293; Quebec n=109) unaffected female non-carriers from BRCA-proven mutation families provided information about the uptake of mammography, clinical breast examination, breast self-examination, and ovarian ultrasounds using self-administered questionnaires. The frequency of screening practices between study cohorts were compared using logistic regression. Annual mammography was conducted in 23 and 43% of French and Quebecer women participants <50 years of age, respectively (adjusted odds ratio (aOR)=2.72; 95% confidence interval (CI), 1.08-6.81). In women ≥ 50 years of age, mammography was conducted in 49 and 65% of French and Quebecer participants (aOR=1.77; 95% CI, 0.07-4.51). Overall, 33% of French women and 39% of Quebecer women underwent at least one ovarian ultrasound during the 2-year period following BRCA1/2 test result with no significant difference between cohorts of women < 50 years of age. Among older women, Quebecers reported more frequently than French women that they had undergone ultrasound once (aOR=3.00; 95% CI, 1.02-8.83). The frequency of cancer screening practices for female non-carriers from BRCA1/2 mutation-positive families in both France and Quebec exceeded those recommended for similarly aged women in the general population. Our findings highlight the need for clearcut recommendations on the follow-up of women from BRCA1/2 families who are not themselves carriers of a BRCA1/2 mutation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics*
  • Cohort Studies
  • Early Detection of Cancer / statistics & numerical data*
  • Family
  • Female
  • Follow-Up Studies
  • France
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics*
  • Quebec