Integration of genetic testing for risk associated genomic variants and rare predisposition genes into the management of high risk hereditary breast cancer families

将风险相关基因组变异和罕见易感基因的基因检测纳入高风险遗传性乳腺癌家族的管理

• 批准号: nhmrc : 1023698
• 负责人: A/Pr Paul James
• 金额: $ 43.04万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2012
• 资助国家: 澳大利亚
• 起止时间: 2012-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/integration-genetic-testing-cancer-families/110295
• 关键词: Integration; genetic; testing; risk; associated

Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.

乳腺癌是一种常见疾病，高达20%的病例与家族病史有关。该项目旨在评估最近发现的风险相关基因组变异和罕见的易感基因对家族性乳腺癌遗传性的贡献。该项目还将评估临床医生和患者的经验，因为我们的目标是利用这些信息来帮助改善家族性癌症专科中心的风险评估和遗传咨询程序。