Young Women From BRCA1/2 Families: A Family History And A Future

来自 BRCA1/2 家庭的年轻女性：家族史和未来

基本信息

批准号：
8930928
负责人：
Suzanne C. O'Neill
金额：
$ 7.78万
依托单位：
GEORGETOWN UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2014
资助国家：
美国
起止时间：
2014-09-22 至 2016-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8930928
关键词：
Address Adult Affect Affective Age Area BRCA1 gene Cancer Family Caring Clinical Clinical Research Clinical Trials Cognition Counseling DNA Sequence Alteration Data Decision Making Development Disadvantaged Disease Distress Early Diagnosis Emotional Emotions Environmental Risk Factor Face Family Family Cancer History Female Foundations Future Generations Genetic Genetic Counseling Genetic Predisposition to Disease Genetic Risk Genetic screening method Guidelines Health Health behavior Hereditary Breast and Ovarian Cancer Syndrome High-Risk Cancer Interview Knowledge Life Likelihood Functions Literature Magnetic Resonance Imaging Malignant Neoplasms Malignant neoplasm of ovary Mammography Mediating Medical Methods Motivation Mutation Operative Surgical Procedures Outcome Outcome Study Participant Patient Education Phase Physicians Plague Population Process Provider Publishing Recording of previous events Recruitment Activity Relative (related person)Relative Risks Research Resources Risk Risk Management Second Degree Relative Surveys Test Result Testing Time Ultrasonography Uncertainty Woman Work aged cancer genetics cancer risk cohort coping experience genetic registry indexing intergenerational lifetime risk male malignant breast neoplasm men mutation carrier premature programs psychologic psychosocial resilience response screening standard of care theories uptake young woman

项目摘要

DESCRIPTION (provided by applicant): BRCA1/2 mutation carriers have highly elevated odds of developing HBOC, as may their first- and second- degree relatives. Guidelines suggest that BRCA1/2 testing for these young relatives should not begin before age 18 due to limited medical benefit and potential psychosocial harm. In contrast, testing for women over age 25 is recommended as standard of care. Testing for women aged 18-25 presents a clinical dilemma. Testing at this young age could offer the advantage of providing definitive genetic risk information, allowing the opportunity to take a proactive stance to life planning. However, risk management strategies come with distinct disadvantages at this age. These include an increase of breast cancer risk associated with mammography in carriers prior to age 30. Young women face these advantages and disadvantages with limited decision making experience and decision processes that are more prone to affective biases than their older counterparts. Our ongoing qualitative work with providers suggests these emotional and developmental factors make counseling these women unique and challenging. The present application addresses the clinical dilemma that faces these young women and their providers. Guided by the Theory of Genetic Vulnerability, we will leverage our cancer genetic registry and clinical research program in a mixed-methods study of women age 18-25 with a first- or second-degree relative who is a BRCA1/2 carrier. Our resources contain well-characterized data about our large cohort of women and men with a known mutation ("index carrier"). These data include not only data regarding age of testing, affected status, and risk management decisions, but also psychosocial data such as distress. We will combine these secondary data with new primary data collected from young female relatives to assess variables associated with their likelihood to test. In Phase I, we will use these quantitative data to assess the relationship between a young woman's cancer family history and cancer-related emotions and cognitions on her likelihood to test. We also will assess the mediational effects of index carrier's psychosocial functioning and health behaviors on this relationship. In Phase II, we will follow our quantitative work with qualitative interviews of 20 tested women and their physicians. These interviews will allow us to determine how receipt of a genetic test result affects the psychosocial tasks of development and medical care of young female HBOC relatives from the perspective of tested young women and their providers. Our work would allow for targeted approaches to patient education and counseling in this population.

描述（由申请人提供）：BRCA1/2突变载体的发展HBOC的几率高度升高，其一级和二级亲戚也可以。指南表明，由于医疗益处有限和潜在的社会心理伤害，对这些年轻亲戚的BRCA1/2测试不应在18岁之前开始。相反，建议对25岁以上的妇女进行测试作为护理标准。对18-25岁妇女的测试带来了临床困境。在这个年轻的时候进行测试可以提供提供确定的遗传风险信息的优势，从而使机会对生活计划采取积极的立场。但是，在这个年龄段，风险管理策略具有不同的缺点。其中包括增加30岁以前携带者乳腺X线摄影的乳腺癌风险。年轻妇女面临这些优势和缺点，决策经验和决策过程有限，比较旧的同行更容易出现情感偏见。我们与提供者正在进行的定性工作表明，这些情感和发展因素使这些妇女的咨询变得独特而具有挑战性。本申请解决了面临这些年轻妇女及其提供者的临床困境。在遗传脆弱性理论的指导下，我们将在18-25岁的妇女的混合方法研究中利用我们的癌症遗传注册表和临床研究计划，其一级或二级亲戚是BRCA1/2载体。我们的资源包含有关我们大量具有已知突变（“索引携带者”）的男性和男性队列的典型数据。这些数据不仅包括有关测试年龄，影响状态和风险管理决策的数据，还包括诸如困境之类的心理社会数据。我们将将这些次要数据与从年轻女性亲戚收集的新主要数据相结合，以评估与其测试可能性相关的变量。在第一阶段，我们将使用这些定量数据来评估年轻女性的癌症家族史与与癌症相关的情绪与认知的关系。我们还将评估指数载体的心理社会功能和健康行为对这种关系的中介作用。在第二阶段，我们将遵循我们的定量工作，对20名经过测试的妇女及其医师进行定性访谈。这些访谈将使我们能够确定遗传测试结果如何影响年轻女性HBOC亲戚的发展和医疗护理的心理社会任务，从经过测试的年轻妇女及其提供者的角度来看。我们的工作将允许对该人群的患者教育和咨询进行有针对性的方法。