BRCA1 TESTING IN A LARGE AFRICAN AMERICAN KINDRED

该项目旨在通过研究遗传咨询和检测的利用率，以及在与特定BRCA 1突变相关的大型扩展非洲裔美国人亲属（K2099）中接受遗传信息的行为和心理社会反应，来解决文献中关于癌症易感性检测的关键空白。从这项研究中获得的信息可以指导临床干预措施，帮助促进遵守癌症预防和BRCA 1突变携带者和非携带者的筛查指南，并预防与接受具有类似K2099特征的家族遗传信息相关的心理社会功能障碍。这项研究的结果也可以转化为文化上适当的干预措施，以促进健康的行为和应对。女性BRCA 1突变携带者患乳腺癌或卵巢癌的风险很高。男性携带者患前列腺癌的风险增加，并可能将BRCA 1突变传递给他们的后代。将在四年内对大约150名K2099成员及其配偶/伴侣进行前瞻性研究。遗传教育和咨询将提供测试时提供，并在结果会议。将通过详细的问卷调查收集数据之前和之后的广泛的行为和心理社会措施的测试。具体目标是：（1）确定决定选择或拒绝遗传咨询和检测服务的预测因素;（2）检查成年女性和男性亲属的配偶/伴侣对BRCA 1检测的态度，并确定它们如何影响BRCA 1检测决定;（3）评估BRCA 1基因突变的遗传咨询和检测对亲属及其配偶/伴侣的心理和社会健康的影响;（4）确定遗传咨询和检测以及BRCA 1突变携带者状态的知识如何影响成年女性和男性对卫生服务的利用和健康行为;（5）描述遗传咨询和检测以及BRCA 1突变相关癌症筛查和预防措施的利用的促进因素和障碍。

This project proposes to address a critical gap in the literature regarding cancer susceptibility testing by examining utilization of genetic counseling and testing, and behavioral and psychosocial responses to the receipt of genetic information among a large, extended African American kindred (K2099) linked to a specific BRCA1 mutation. Information derived from this study may guide clinical interventions that help promote adherence to cancer prevention and screening guidelines for BRCAl mutation carriers and noncarriers and prevent psychosocial dysflmction related to receiving genetic information among families with characteristics similar to K2099. The findings from this study may also be translated into culturally appropriate interventions to promote healthy behaviors and coping. Female BRCA1 mutation carriers have a very high risk of developing breast or ovarian cancer. Male carriers are at an increased risk for prostate cancer and may transmit the BRCA1 mutation to their offspring. A prospective study of approximately 150 members of K2099 and their spouses/partners will be performed over a four year period. Genetic education and counseling will be provided when testing is offered and at the results session. Data will be collected through detailed questionnaires before and after testing on a wide range of behavioral and psychosocial measures. The specific aims are to: (1) identify predictors of the decision to choose or decline genetic counseling and testing services; (2) examine the attitudes towards BRCA1 testing among spouses/partners of adult female and male kindred members and determine how they influence BRCAl testing decisions; (3) evaluate the effects of genetic counseling and testing for BRCA1 mutations on psychological and social well being of kindred members and their spouses/partners; (4) identify how genetic counseling and testing, and knowledge of BRCA1 mutation carrier status influences utilization of health services and health behaviors among adult women and men; and (5) describe facilitators and barriers to genetic counseling and testing and utilization of screening and preventive measures for BRCA1 mutation-linked cancers.