Re-recognition of BMPR1A-related polyposis:beyond juvenile polyposis and hereditary mixed polyposis syndrome
作者机构：Department of Colorectal Surgery and Hereditary Colorectal Cancer RegistryChanghai HospitalShanghaiP.R.China Department of General SurgeryEastern Theater Naval Hospital of Chinese PLAZhoushanZhejiangP.R.China Department of PathologyChanghai HospitalShanghaiP.R.China
出 版 物：《Gastroenterology Report》 (胃肠病学报道（英文）)
年 卷 期：2023年第11卷第1期
页 面：209-215页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：supported by National Key R&D Program of China[no.2017YFC1308800] National Natural Science Foundation of China[no.81870455] Discipline Climbing Program 234 of Changhai Hospital[no.2019YXK036]
主 题：BMPR1A gene juvenile polyposis syndrome hereditary mixed polyposis syndrome hamartoma polyposis
摘 要：Background Bone morphogenetic protein receptor type 1A(BMPR1A)is responsible for two individual Mendelian diseases:juvenile polyposis syndrome and hereditary mixed polyposis syndrome 2,which have overlapping *** study aimed to elucidate whether these two syndromes are just two subtypes of a single syndrome rather than two isolated *** We sequenced the BMPR1A gene in 186 patients with polyposis and colorectal cancer,and evaluated the clinicopathological features and phenotypes of the probands and their available relatives with BMPR1A *** BMPR1A germline mutations were found in six probands and their three available *** numbers of frameshift,nonsense,splice-site,andmissensemutations were one,one,two,and two,respectively;two of the sixmutations were *** juvenile polyps were found in only three *** patients had colorectal cancer rather than any *** Diseases in BMPR1A germline mutation carriers vary from mixed polyposis to sole colorectal cancer,and typical juvenile polyps do not always occur in these *** variety of phenotypes reflected the features of BMPR1Amutation carriers,which should be recognized as a spectrum of one *** testing may be a good approach to identifying BMPR1A-related syndromes.
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