MUTYH-associated polyposis (MAP) was first described in 2002. It is an autosomal recessive condition associated with germline pathogenic variants of both MUTYH alleles. In 2011, a group of French experts reviewed the available data on this syndrome and established recommendations concerning the indications and strategies for molecular analysis of the MUTYH gene in index cases and their relatives, as well as the clinical management of affected individuals under the auspices of the French Institut National du Cancer (INCa). Some of these recommendations have become obsolete as a result of recent progress, especially those concerning the molecular strategy for MUTYH testing, as this gene has recently been included in a consensus panel of 14 colorectal cancer predisposition genes, justifying revision of the previous report. We report here the revised version of this work, which successively considers the phenotype and tumor risks associated with this genotype, differential diagnoses, criteria and strategy for molecular genetic testing and recommendations for the management of affected individuals. We also discuss the phenotype and tumor risks associated with monoallelic pathogenic variants of MUTYH.

MUTYH相关性息肉病（MAP）于2002年首次描述。这是一种常染色体隐性遗传病，与两个MUTYH等位基因的生殖系致病变异有关。2011年，一组法国专家审查了有关该综合征的可用数据，并提出了有关在索引病例及其亲属中进行MUTYH基因的分子分析的适应症和策略，以及在该病主持下受影响患者的临床管理的建议。法国国家癌症研究所（INCa）。由于最近的进展，其中一些建议已过时，尤其是有关MUTYH分子策略的建议测试，因为该基因最近已包含在14个结直肠癌易感基因的共识面板中，有力地证明了先前报告的修订。我们在这里报告这项工作的修订版，该修订版先后考虑了与该基因型相关的表型和肿瘤风险，鉴别诊断，分子遗传学检测标准和策略以及对受影响个体进行管理的建议。我们还讨论了MUTYH的单等位基因致病变异的表型和肿瘤风险。