在MUTYH基因中与致病性DNA变体的表型相关性
medRxiv : the preprint server for health sciences
|May 27, 2024
概括
与MUTYH相关的多重症 (MAP) 是一种与结直肠癌 (CRC) 相关的遗传性疾病. 这次审查澄清了MAP.
科学领域:
- 遗传学和基因组学 在
- 在瘤学瘤学.
- 胃肠病学 胃肠病学
背景情况:
- 与MUTYH相关的多重症 (MAP) 是一种由双基致病性MUTYH变体引起的自体衰退性疾病.
- MAP使个体易患腺瘤和结肠直肠癌 (CRC),并可能出现结肠外表现.
- 现有文献显示,MAP表型的全谱存在差异.
研究的目的:
- 进行叙述性审查并描述MUTYH相关多重症 (MAP) 的表型谱.
- 澄清各种表型与MAP的关联,并将其与类似的条件 (如FAP) 区分开来.
- 帮助评估致病性MUTYH变异,使用ACMG/AMP指南改善患者护理.
主要方法:
- 在文献中搜索以确定有关MAP特定表型的文章.
- 在文献中确定了2109名MAP患者的临床数据的分析.
- 对与MAP相关的结肠外和肠外表现的审查.
主要成果:
- 在53.2%的MAP患者中观察到结肠直肠癌 (CRC);腺瘤不是强制性的.
- 特定的MUTYH变体 (创始人误解,可能是截断) 与癌症风险增加有关.
- 相关的肠外/肠外表现包括十二指肠,胃,卵巢,膀和皮肤癌;乳腺癌和子宫内膜癌的关联是有争议的.
结论:
- 腺瘤不是MUTYH相关多重症 (MAP) 的强制性特征.
- 特定的MUTYH变异赋予更高的癌症风险,体质G:C>T:A转变可能作为生物标志物.
- 描述MAP表型有助于变体解释和临床管理.
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