Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients
Open Access
- 1 April 2005
- journal article
- Published by American Association for Cancer Research (AACR) in Cancer Epidemiology, Biomarkers & Prevention
- Vol. 14 (4), 1003-1007
- https://doi.org/10.1158/1055-9965.epi-03-0545
Abstract
Background: Among newly diagnosed breast cancer patients who are at risk for carrying a BRCA1 or BRCA2 mutation, knowledge of mutation status can influence local breast cancer treatment decisions. Thus, genetic testing at the time of diagnosis is increasingly considered an option for such patients. In this study, we evaluated factors associated with the decision to undergo BRCA1/BRCA2 gene testing at the time of initial breast cancer diagnosis. Methods: Participants were newly diagnosed breast cancer patients who had not yet received definitive local breast cancer treatment and who had a family history consistent with hereditary breast cancer. Participants were offered genetic counseling and BRCA1/BRCA2 testing with results in 2 to 3 weeks. Results: Of 231 patients who referred to the study, 20 (9%) declined the baseline interview, 34 (15%) completed a baseline interview but declined genetic testing, and 177 (76%) underwent BRCA1/BRCA2 testing. Physician recommendation for BRCA1/BRCA2 testing and indecision about definitive local treatment were both associated with undergoing testing. Among patients who were tested, 38 (21%) proceeded with definitive local treatment before receiving test results. Delay in the availability of test results and low levels of anxiety were associated with the decision to proceed with definitive local treatment before receiving test results. Conclusions: These results suggest that if rapid testing is available and genetic referrals are made for appropriate patients, a high proportion are likely to opt for such testing. In particular, patients who have not yet reached a decision about definitive local treatment may benefit from a genetic referral.Keywords
This publication has 31 references indexed in Scilit:
- Tailoring Breast Cancer Treatment to Genetic Status: The Challenges AheadJournal of Clinical Oncology, 2004
- Impact of BRCA1/BRCA2 Counseling and Testing on Newly Diagnosed Breast Cancer PatientsJournal of Clinical Oncology, 2004
- Bilateral Prophylactic Oophorectomy and Ovarian Cancer Screening Following BRCA1/BRCA2 Mutation TestingJournal of Clinical Oncology, 2003
- Impact of BRCA1/BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based SampleJournal of Clinical Oncology, 2002
- Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk.Health Psychology, 2001
- Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer FamiliesAmerican Journal of Human Genetics, 1998
- The Risk of Cancer Associated with Specific Mutations ofBRCA1andBRCA2among Ashkenazi JewsNew England Journal of Medicine, 1997
- Identification of the breast cancer susceptibility gene BRCA2Nature, 1995
- Unusual case of Smith‐Lemli‐Opitz syndrome “type II”American Journal of Medical Genetics, 1995
- Effects of Individualized Breast Cancer Risk Counseling: a Randomized TrialJNCI Journal of the National Cancer Institute, 1995