Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
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DOI：
10.1186/1897-4287-3-3-95
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发表时间：
2005-09-15
影响因子：
1.7
通讯作者：
Aretz S
中科院分区：
文献类型：
--
作者：
Friedl W;Aretz S
常染色体显性遗传的癌前病变家族性腺瘤性息肉病（FAP）是由肿瘤抑制基因APC的种系突变引起的。不同患者组的基因突变位点和临床表型之间的一致相关性已被发表。我们报告了我们在1166个无关息肉病家族中APC突变分析和基因型-表型相关性的经验，并根据文献数据讨论了我们的结果。我们发现，突变检测率在很大程度上取决于家族史和疾病的临床过程。我们列出了在1166例索引患者中的634例中检测到的315个不同的点突变和37个大缺失。我们的研究结果证实了先前发表的基因型-表型相关性与结直肠表型和结肠外表现。然而，“例外的规则”也被观察到，并对此可能的解释进行了讨论。常染色体隐性遗传MUTYH相关息肉病（MAP）作为FAP的鉴别诊断的发现意味着必须重新解释某些结果，并重新评估家族中的监测指南。
The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive MUTYH-associated polyposis (MAP) as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.
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影响因子：
64.5
作者：
GRODEN, J;THLIVERIS, A;WHITE, R
通讯作者：
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29.4
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通讯作者：
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