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 : 1108797
• 负责人: Dr Aung Win
• 金额: $ 27.08万
• 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: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2019-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/muir-torre-syndrome-endometrial-cancer/663059
• 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.

皮脂腺瘤 (SN) 可能是林奇综合征 (LS) 的早期预警信号，林奇综合征是一种由一组基因突变引起的遗传性癌症倾向。肠癌和子宫癌的终生风险很高，如果已知风险，则可以制定有效的风险管理计划。 SN 在识别 LS 中的作用给临床医生带来了挑战。目前还很难区分。我们的目标是确定特征以改善 LS 携带者的诊断。