Muir Torre Syndrome: The role of IHC and genotyping in sebaceous neoplasia to facilitate prevention strategies in colorectal and endometrial cancer

Muir Torre 综合征：IHC 和基因分型在皮脂腺瘤形成中的作用，以促进结直肠癌和子宫内膜癌的预防策略

• 批准号: nhmrc : GNT1108797
• 负责人: A/Pr Daniel Buchanan
• 金额: $ 39.68万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/muir-torre-syndrome-endometrial-cancer/1346661
• 关键词: Muir; Torre; Syndrome; role; IHC

Sebaceous neoplasia (SN), may be an early warning sign for Lynch syndrome (LS), an inherited cancer predisposition caused by mutations in a group of genes. There are high lifetime risks of bowel and uterine cancer, for which there are effective risk management plans if the risk is known. Clinicians are challenged by the role of SN in identifying LS. At present, it is hard to differentiate. We aim to determine features to improve the diagnosis of LS carriers.

皮脂腺肿瘤(SN)可能是Lynch综合征(LS)的早期预警信号，LS是一种由一组基因突变引起的遗传性癌症易感性。肠癌和子宫癌的终生风险很高，如果风险已知，就有有效的风险管理计划。临床医生对SN在识别LS中的作用提出了挑战。目前，这一点很难区分。我们的目标是确定特征，以提高LS携带者的诊断水平。