Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study
AuthorKeogh, Louise A.; Southey, Melissa C.; Maskiell, Judi; Young, Mary-Anne; Gaff, Clara L.; Kirk, Judy; Tucker, Katherine M.; Rosenthal, Doreen; McCredie, Margaret R. E.; Giles, Graham G.; ...
Source TitleCancer Epidemiology, Biomarkers & Prevention
PublisherAmerican Association for Cancer Research
University of Melbourne Author/sGaff, Clara; Giles, Graham; Hopper, John; Keogh, Louise; MASKIELL, Judi; Rosenthal, Doreen; Southey, Melissa
AffiliationMedicine, Dentistry and Health Sciences: Key Centre for Women's Health in Society
Document TypeJournal (Paginated)
CitationsKeogh, L. A., Southey, M. C., Maskiell, J., Young, M., Gaff, C. L., Kirk, J., Tucker, K. M., Rosenthal, D., McCredie, M. R. E., Giles, G. G., & Hopper, J. L. (2004). Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study. Cancer Epidemiology, Biomarkers and Prevention, 13(12), 2258-2263.
Access StatusOpen Access
This is a publisher's version of an article published in Cancer Epidemiology, Biomarkers & Prevention 2004 published by American Association for Cancer Research. This version is reproduced with permission from AACR. http://cebp.aacrjournals.org/
Research on the utilization of genetic testing services for mutations in BRCA1 and BRCA2 has focused on women with a strong family history of breast and ovarian cancer. We conducted a population-based case-control-family study of Australian women diagnosed with invasive breast cancer before age 40 years, unselected for family history, and tested for germ line mutations in BRCA1 and BRCA2. Case subjects found to carry a deleterious mutation and their relatives who had given a research blood sample were informed by mail that the study had identified “genetic information” and were offered the opportunity to learn more. Those interested were referred to a government-funded family cancer clinic. Of 94 subjects who received the letter, 3 (3%) did not respond and 38 (40%) declined to learn their result (16 declined the referral, 10 accepted but did not attend a clinic, and 12 attended a clinic but declined testing), and 12 (13%) remain “on hold”. The remaining 41 (44%) chose to learn their result (3 of whom already knew their mutation status). There was no evidence that the decision to learn of mutation status depended on age, gender, family history, or having been diagnosed with breast cancer. Of 19 families with more than one participant, in 11 (58%) there was discordance between relatives in receiving genetic results.
Keywordsgenetic testing; uptake; breast cancer; BRCA1; BRCA2
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