Genética hereditaria: investigación actual

Abstracto

Assessment of Interest for Breast Cancer Prevention Trial Participation among BRCA Mutation Carriers

Rachel M Hurley, Vera Suman, Mary Daly, Sumithra Mandrekar, Paul J Limburg and Sandhya Pruthi

Purpose: BRCA1 and BRCA2 mutation carriers develop breast cancers with a tumor phenotype unique from spontaneous tumors. We surveyed known BRCA mutation carriers to determine willingness to be contacted about participation in future breast cancer prevention research studies directed to their unique phenotype.
Methods: Data were collected through self-reported surveys at 3 participating institutions from women who: wereat least 20 years of age; had a documented germline, deleterious mutation in BRCA1 or BRCA2; and had no prior history of breast cancer. Survey questions related to willingness regarding possible participation in future breast cancer prevention trials, including studies that may involve breast biopsies. Survey results were summarized using descriptive statistics.
Results: Among 56 BRCA1 and BRCA2 mutation carriers who responded, 55.4% of women reported high or very high interest in participating in a randomized control study of chemoprevention agent vs. placebo. Within this population, post-menopausal women demonstrated a higher interest in study participation (64.5%) versus premenopausal women (38.9%). When examining willingness to undergo breast biopsy for a chemoprevention study, women expressed near equal willingness (42.9%) and unwillingness (44.6%) for biopsy.
Conclusions: BRCA1 and BRCA2 mutation carriers demonstrated significant interest in breast cancer prevention study participation involving active versus placebo agents, and an equal expression of willingness and unwillingness to undergo breast biopsy. These data should be highly informative for planning future breast cancer chemoprevention trials.