French experts report on MUTYH-associated polyposis (MAP)
French experts report on MUTYH-associated polyposis (MAP)
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DOI：
10.1007/s10689-012-9511-0
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发表时间：
2012-09-01
期刊：
影响因子：
2.2
通讯作者：
Saurin, Jean-Christophe
中科院分区：
文献类型：
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作者：
Buecher, Bruno;Bonaiti, Catherine;Saurin, Jean-Christophe
近年来，我们对腺瘤性息肉病的遗传决定论的认识有所提高，2002年描述了一种新的实体，称为“MUTYH相关息肉病”（MAP），与该基因的双等位基因突变有关。其常染色体隐性遗传模式与经典的“家族性腺瘤性息肉病”（FAP）的常染色体显性遗传形成对比，后者与APC种系突变相关。虽然一些表型特征可能对区分这两种疾病有价值，但它们的临床“谱”在很大程度上重叠，鉴别诊断可能很困难。在法国国家癌症研究所（印加）的赞助下进行的这项专门知识的目的是评估MUTYH相关息肉病的知识现状，并在分子分析领域提出一些建议（受影响患者及其亲属的测试和分析策略的适应症）和基于文献中可用数据的临床管理，法国分子遗传学实验室进行MUTYH分析的结果以及生物学家和临床专家（遗传顾问和胃肠病学家）的意见。还研究了携带单等位基因MUTYH突变的亲属患结直肠癌的风险。
Recent years have been characterised by an improvement in our knowledge of genetic determinism of adenomatous polyposes and by the description in 2002 of a new entity called "MUTYH-associated polyposis" (MAP), related to biallelic mutations of this gene. Its autosomal recessive mode of inheritance contrasts with the autosomal dominant inheritance of the classical "familial adenomatous polyposis" (FAP), associated with an APC germline mutation. Although some phenotypic features may be of value to distinguish these two conditions, their clinical "spectra" largely overlap and the differential diagnosis may be difficult. The purpose of this expertise conducted under the auspices of the French Institut National du Cancer (INCa) was to assess the current state of knowledge on MUTYH-associated polyposis and to establish some recommendations in the field of molecular analysis (indications of tests and analysis strategies for affected patients and their relatives) and of clinical management based on available data in the literature, on the results from the French molecular genetics laboratories performing MUTYH analysis and on the opinions of biologists and clinicians experts (genetic counsellors and gastroenterologists). The risk of colorectal cancer among relatives carrying a monoallelic MUTYH mutation was also studied.