Assessment of the effects of pathogenic germline TP53 mutations; International Sarcoma Kindred Study participants’ views of feedback of genetic research results and the acceptability of taking part in a pilot screening programme

评估致病性种系 TP53 突变的影响；

• 批准号: nhmrc : 1055729
• 负责人: Ms Kathryn Mcbride
• 金额: $ 3.68万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: Postgraduate Scholarships
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/assessment-effects-pathogenic-screening-programme/454569
• 关键词: Assessment; effects; pathogenic; germline; TP53

The International Sarcoma Kindred Study (ISKS) aims to identify individuals who harbour germline TP53 mutations. TP53 mutations are characterised by the development of multiple cancers including sarcoma. This project will assess ISKS participants’ views of the feedback of genetic research information and will develop sensitive feedback practices. The acceptability and psychological impact of taking part in a pilot screening protocol designed for cancer-prone populations will also be assessed.

国际肉瘤亲缘研究（ISKS）旨在识别携带生殖系TP53突变的个体。TP53突变的特征是发展多种癌症，包括肉瘤。该项目将评估国际科学家协会参与者对遗传研究信息反馈的看法，并将制定敏感的反馈做法。还将评估参加为癌症易感人群设计的试点筛查方案的可接受性和心理影响。