No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation–positive families

  • S. Guedaoura Université Laval
  • S. Pelletier Université Laval, Québec
  • W.D. Foulkes McGill University; Sir Mortimer B. Davis Jewish General Hospital
  • P. Hamet Université de Montréal; chum
  • J. Simard Université Laval
  • N. Wong Sir Mortimer B. Davis Jewish General Hospital
  • Z. El Haffaf Université de Montréal; Université Laval
  • J. Chiquette Université Laval
  • M. Dorval Université Laval
Keywords: BRCA genes, true noncarriers, cancer screening practices, familial cancer history, cohort studies

Abstract

Background

In families with a proven BRCA1/2 mutation, women not carrying the familial mutation should follow the cancer screening recommendations applying to women in the general population. In the present study, we evaluated the cancer screening practices of unaffected noncarriers from families with a proven BRCA mutation, and we assessed the role of family history in their screening practices.

Methods

Self-report data were provided retrospectively by 220 unaffected female noncarriers for periods of up to 10 years (mean: 4.3 years) since disclosure of their BRCA1/2 genetic test result. A ratio for the annual frequency of breast and ovarian cancer screening exams (mammography, breast ultrasonography, breast magnetic resonance imaging, transvaginal or pelvic ultrasound, cancer antigen 125 testing) was calculated as number of screening exams divided by the number of years in the individual observation period.

Results

The annual average for mammography exams was 0.15, 0.4, 0.56, and 0.71 in women 30–39, 40–49, 50–59, and 60–69 years of age respectively. The uptake of other breast and ovarian cancer screening exams was very low. Mammography and breast ultrasonography and magnetic resonance imaging were generally more frequent among participants with at least 1 first-degree relative affected by breast cancer.

Conclusions

In most noncarriers, screening practices are consistent with the guidelines concerning women in the general population. When noncarriers adopt screening behaviours that are different from those that would be expected for average-risk women, those behaviours are influenced by their familial cancer history.

Impact

Decision tools might help female noncarriers to be involved in their follow-up in accordance with their genetic status and their family history, while taking into account the benefits and disadvantages of cancer screening.


Author Biographies

S. Guedaoura, Université Laval
Faculté de pharmacie; Centre de recherché du chu de Québec
S. Pelletier, Université Laval, Québec
Centre de recherche du CHU de Québec
W.D. Foulkes, McGill University; Sir Mortimer B. Davis Jewish General Hospital

Departments of Human Genetics and Oncology

P. Hamet, Université de Montréal; chum
Faculté de médecine;Service de médecine génique
J. Simard, Université Laval
Centre de recherché du chu de Québec;Faculté de médecine
Z. El Haffaf, Université de Montréal; Université Laval
Faculté de médecine; Faculté de médecine
J. Chiquette, Université Laval
Centre de recherché du chu de Québec; Faculté de médecine; Centre des maladies du sein Deschênes–Fabia, chu de Québec
M. Dorval, Université Laval
Centre des maladies du sein Deschênes–Fabia, chu de QuébecFaculté de pharmacie; Centre de recherché du chu de Québec;
Published
2017-12-20
How to Cite
Guedaoura, S., Pelletier, S., Foulkes, W., Hamet, P., Simard, J., Wong, N., El Haffaf, Z., Chiquette, J., & Dorval, M. (2017). No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation–positive families. Current Oncology, 24(6), 352-359. https://doi.org/10.3747/co.24.3759
Section
Cancer Control and Prevention