Abstract
BackgroundIt has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation. Such women have an increased risk of developing a new primary breast and/or ovarian tumor, and may therefore opt for preventive surgery (e.g., bilateral mastectomy, oophorectomy). It is common practice to offer high-risk patients genetic counseling and DNA testing after their primary treatment, with genetic test results being available within 4-6 months. However, some non-commercial laboratories can currently generate test results within 3 to 6 weeks, and thus make it possible to provide rapid genetic counseling and testing (RGCT) prior to primary treatment. The aim of this study is to determine the effect of RGCT on treatment decisions and on psychosocial health.Methods/DesignIn this randomized controlled trial, 255 newly diagnosed breast cancer patients with at least a 10% risk of carrying a BRCA gene mutation are being recruited from 12 hospitals in the Netherlands. Participants are randomized in a 2:1 ratio to either a RGCT intervention group (the offer of RGCT directly following diagnosis with tests results available before surgical treatment) or to a usual care control group. The primary behavioral outcome is the uptake of direct bilateral mastectomy or delayed prophylactic contralateral mastectomy. Psychosocial outcomes include cancer risk perception, cancer-related worry and distress, health-related quality of life, decisional satisfaction and the perceived need for and use of additional decisional counseling and psychosocial support. Data are collected via medical chart audits and self-report questionnaires administered prior to randomization, and at 6 month and at 12 month follow-up.DiscussionThis trial will provide essential information on the impact of RGCT on the choice of primary surgical treatment among women with breast cancer with an increased risk of hereditary cancer. This study will also provide data on the psychosocial consequences of RGCT and of risk-reducing behavior.Trial registrationThe study is registered at the Netherlands Trial Register (NTR1493) and ClinicalTrials.gov (NCT00783822).
Highlights
It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation
In 15%-30% of patients from high-risk families, breast cancer is caused by a germline mutation in the BRCA1 or BRCA2 gene [1,2,3,4]
Breast cancer patients who carry a BRCA1/2 mutation have a 3% annual risk of developing contralateral breast cancer, with the overall risk being as high as 52% by the age of 70 [7,8]
Summary
It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation Such women have an increased risk of developing a new primary breast and/or ovarian tumor, and may opt for preventive surgery (e.g., bilateral mastectomy, oophorectomy). For BRCA1/2 carriers who were diagnosed with breast cancer before the age of 40 years, the cumulative risk of developing contralateral breast cancer after a follow up of 25 years is even higher, i.e. 63% [9] Given these high rates of new primary cancers, breast cancer patients with strong family histories of the disease may benefit from genetic counseling and testing as a means of making a well-informed decision on preventive measures
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