BRCA1 TESTING IN A LARGE AFRICAN AMERICAN KINDRED

大型非裔美国人血统中的 BRCA1 检测

• 批准号: 6638067
• 负责人: Anita Y. Kinney
• 金额: $ 25.17万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-09-25 至 2006-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6638067
• 关键词: African American; behavioral /social science research tag; brca gene; breast neoplasms; clinical research; colorectal neoplasms; culture; family genetics; functional ability; gene expression; genetic carriers; genetic counseling; genetic screening; genetic susceptibility; health care service utilization; human subject; interview; mammography; neoplasm /cancer diagnosis; neoplasm /cancer education; neoplasm /cancer genetics; ovary neoplasms; quality of life; questionnaires; self examination; social support network; statistics /biometry

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.

该项目建议通过研究遗传咨询和测试的利用，以及与特定BRCA1突变相关的大型非裔美国人亲属（K2099）中对接收遗传信息的行为和社会心理反应，以解决有关癌症易感性测试的关键差距。从这项研究中得出的信息可以指导临床干预措施，有助于促进对癌症预防和筛查BRCAL突变携带者和非载流子的筛查指南，并防止与具有类似K2099的特征的家庭中接收遗传信息有关的社会心理异常障碍。这项研究的发现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。雌性BRCA1突变携带者患乳腺癌或卵巢癌的风险很高。男性携带者的前列腺癌风险增加，并可能将BRCA1突变传递给其后代。对大约150名K2099及其配偶/伴侣的前瞻性研究将在四年内进行。在提供测试和结果会议上，将提供遗传教育和咨询。在对广泛的行为和社会心理措施进行测试之前和之后，将通过详细的问卷收集数据。具体目的是：（1）确定选择或拒绝遗传咨询和测试服务的决定的预测因素； （2）检查成年男女的配偶/伴侣对BRCA1测试的态度，并确定它们如何影响BRCAL测试决定； （3）评估BRCA1突变对遗传咨询和测试对同类成员及其配偶/伴侣的心理和社会福祉的影响； （4）确定遗传咨询和测试以及BRCA1突变载体状况的了解如何影响成年男女健康服务和健康行为的利用； （5）描述了遗传咨询，测试和利用BRCA1突变与癌症的预防措施的促进者和障碍。

项目成果

Religiosity, spirituality, and psychological distress in African-Americans at risk for having a hereditary cancer predisposing gene mutation.

面临遗传性癌症易感基因突变风险的非裔美国人的宗教信仰、灵性和心理困扰。

• DOI: 10.1002/ajmg.c.30194
• 发表时间: 2009
• 期刊: American journal of medical genetics. Part C, Seminars in medical genetics
• 作者: Kinney,AnitaY;Coxworth,JamesE;Simonson,SaraE;Fanning,JosephB
• 通讯作者: Fanning,JosephB

Risk reduction behaviors and provider communication following genetic counseling and BRCA1 mutation testing in an African American kindred.

• DOI: 10.1007/s10897-006-9026-7
• 发表时间: 2006-08-01
• 期刊: Journal of genetic counseling
• 影响因子: 1.9
• 作者: Kinney, Anita Yeomans;Simonsen, Sara Ellis;Smith, Ken
• 通讯作者: Smith, Ken

The impact of receiving genetic test results on general and cancer-specific psychologic distress among members of an African-American kindred with a BRCA1 mutation.

接受基因检测结果对具有 BRCA1 突变的非裔美国人亲属的一般和癌症特异性心理困扰的影响。

• DOI: 10.1002/cncr.21479
• 发表时间: 2005
• 期刊: Cancer.
• 作者: Kinney,AnitaYeomans;Bloor,LindseyE;Mandal,Diptasri;Simonsen,SaraEllis;Baty,BonnieJeanne;Holubkov,Richard;Seggar,Kate;Neuhausen,Susan;Smith,Ken
• 通讯作者: Smith,Ken