Adherence to Cancer Risk Management Among Unaffected BRCA1/2Mutation Carriers

未受影响的 BRCA1/2 突变携带者遵守癌症风险管理

基本信息

批准号：
8207033
负责人：
Adam H Buchanan
金额：
$ 8.48万
依托单位：
DUKE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-07-05 至 2013-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8207033
关键词：
Address Adherence Adult American BRCA1 gene BRCA2 gene Behavior Belief Bilateral Breast CA-125 Antigen Cancer Genetics Network Characteristics Clinic Clinical Comprehensive Cancer Center Computer software Data Data Collection Databases Early Diagnosis Frequencies Genetic Genetic Counseling Genetic Programming Genetic screening method Guidelines Health Benefit Hereditary Malignant Neoplasm Inherited Intervention Lead Light Literature Magnetic Resonance Imaging Malignant Neoplasms Malignant neoplasm of ovary Mammography Mastectomy Modeling Mutation Names National Comprehensive Cancer Network North Carolina Operative Surgical Procedures Participant Patients Pelvis Performance Population Public Health Recommendation Records Research Risk Risk Factors Risk Management Salpingo-Oophorectomy Self Efficacy Surveys Telephone Testing Time Ultrasonography Universities Woman base cancer genetics cancer risk cancer surgery design health belief improved malignant breast neoplasm meetings mutation carrier population based prophylactic therapy design

项目摘要

DESCRIPTION (provided by applicant): Inherited mutations in the BRCA1 and BRCA2 genes lead to significantly increased cancer risks (up to 66% and 46% for lifetime breast and ovarian cancer risks, respectively). And, inherited BRCA1/2 mutations are common, with an estimated population frequency of 1:500 to 1:1000, or 300,000 to 600,000 Americans. Prophylactic surgery and surveillance can reduce cancer risk or enhance early detection in mutation carriers, thereby improving survival up to 24%. Thus, the National Comprehensive Cancer Network now recommends that BRCA1/2 mutation carriers consider prophylactic surgery or have regular surveillance via mammography, breast MRI, pelvic ultrasound and CA-125 testing. There are compelling public health and clinical reasons for determining whether mutation carriers are adherent to these recommendations. Hundreds of thousands of Americans may have a BRCA1/2 mutation, for which available risk management can greatly reduce cancer risk and improve survival. Further, a clear understanding of adherence and factors associated with it could significantly impact genetic counseling practice. Available research on the performance of risk management behaviors among unaffected carriers sheds little light on adherence to current guidelines, which have changed considerably since the advent of BRCA1/2 testing. Thus, there is a clear need for studies that assess adherence to current risk management guidelines. Such studies must also determine why mutation carriers are or are not adherent -- essential information for developing interventions to improve adherence. We propose to assess adherence to recommended breast and ovarian cancer risk management among BRCA1/2 mutation carriers who have had neither breast nor ovarian cancer and who had genetic counseling at Duke Hereditary Cancer Clinic or The University of North Carolina Cancer and Adult Genetics Program. Query of these clinics' databases shows approximately 210 women who meet these criteria and have known their mutation status for at least one year (mean time since results receipt=5.1 years). We will use a cross-sectional, single-group design with data collection via telephone survey to: 1) determine the extent to which participants are adherent to current breast and ovarian cancer risk management recommendations for women with a BRCA1/2 mutation; 2) determine which patient characteristics and beliefs are associated with adherence to recommended risk management; and 3) assess reasons for adherence and non-adherence to recommended risk management. We will use an opt-out strategy, with initial contact made by the clinicians in participating clinics. The NCI's Cancer Genetics Network will provide the software and statistician for data collection, management and analysis. By determining which factors are associated with adherence (e.g., perceived risk and self-efficacy) and reasons participants are or are not adherent (i.e., perceived benefits and barriers), this study will gain the necessary preliminary data to design a theoretically informed intervention to improve adherence among unaffected BRCA1/2 mutation carriers. PUBLIC HEALTH RELEVANCE: Identifying unaffected carriers of BRCA1/2 mutations can lead to substantial reductions in breast and ovarian cancer risk in the hundreds of thousands of Americans estimated to have a mutation. Yet, it is unclear whether unaffected carriers are adherent to current guidelines for managing cancer risk via such behaviors as prophylactic surgery and cancer surveillance. By gathering data on adherence to recommended risk management and factors associated with adherence in a clinic-based population, the proposed study will provide the necessary first step in developing a Health Belief Model-based intervention to improve adherence, thereby increasing the likelihood that the public health benefits of identifying mutation carriers will be realized.

描述（由申请人提供）：BRCA1和BRCA2基因中的遗传突变导致癌症风险显着增加（终生乳腺癌和卵巢癌风险分别高达66％和46％）。并且，遗传的BRCA1/2突变很常见，估计人口频率为1：500至1：1000，或300,000至600,000美国人。预防性手术和监测可以降低癌症的风险或增强突变携带者的早期检测，从而提高生存率高达24％。因此，国家综合癌症网络现在建议BRCA1/2突变携带者考虑预防手术或通过乳房X线摄影，乳房MRI，骨盆超声和CA-125测试进行定期监测。有令人信服的公共卫生和临床原因来确定突变载体是否遵守这些建议。成千上万的美国人可能患有BRCA1/2突变，为此，可用的风险管理可以大大降低癌症风险并改善生存率。此外，对与之相关的依从性和因素的清晰了解可能会严重影响遗传咨询实践。关于不受影响的承运人之间风险管理行为的表现的可用研究几乎没有遵守当前准则的遵守，自BRCA1/2测试出现以来，这些指南发生了很大变化。因此，显然需要研究评估当前风险管理指南的依从性。此类研究还必须确定突变载体为何或不是粘附的原因 - 开发干预措施以提高依从性的重要信息。我们建议评估既不患有乳腺癌和卵巢癌的BRCA1/2突变携带者，并且在杜克（Duke Hereditary）癌症诊所或北卡罗来纳大学癌症和成人遗传学计划的BRCA1/2突变携带者中遵守乳腺癌和卵巢癌风险管理。这些诊所数据库的查询显示，大约有210名符合这些标准的女性，并且已经知道其突变状态至少一年（平均时间以来收到的收到= 5.1年）。我们将通过电话调查使用横截面的单组设计与数据收集到：1）确定参与者在多大程度上遵守BRCA1/2突变女性的当前乳腺癌和卵巢癌风险管理建议； 2）确定哪些患者特征和信念与建议的风险管理有关； 3）评估依从性和不遵守建议风险管理的原因。我们将使用退出策略，并由临床医生在参与诊所进行初步联系。 NCI的癌症遗传学网络将为数据收集，管理和分析提供软件和统计学家。通过确定哪些因素与依从性有关（例如，感知的风险和自我效能感）以及参与者是或不遵守的原因（即感知的福利和障碍），这项研究将获得必要的初步数据，以设计理论上知情的干预以改善未受影响的BRCA1/2突变载体之间的依从性。公共卫生相关性：确定不受影响的BRCA1/2突变携带者可能会导致数十万美国人的乳腺癌和卵巢癌风险大幅减少。然而，目前尚不清楚未受影响的携带者是否遵守当前通过预防手术和癌症监测等行为来管理癌症风险的准则。通过收集有关建议风险管理的依从性数据以及与诊所人群中依从性相关的因素，该研究将为开发基于健康信念模型的干预措施以提高依从性提供必要的第一步，从而增加了识别突变携带者的公共卫生益处的可能性。