The genetic basis of colonic adenomatous polyposis syndromes

被引：0
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作者：
Bente A. Talseth-Palmer
机构：
[1] Norwegian University of Science and Technology,Department of Laboratory Medicine, Children’s and Women’s Health, Faculty of Medicine and Health Sciences
[2] Clinic for Medicine,School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine
[3] Møre og Romsdal Hospital Trust,undefined
[4] University of Newcastle,undefined
[5] Hunter Medical Research Institute,undefined
[6] Clinic for Medicine,undefined
[7] Library,undefined
[8] Molde Hospital,undefined
来源：
Hereditary Cancer in Clinical Practice | / 15卷
关键词：
Genetics; FAP; Genotype-phenotype; Modifier genes; MAP; NAP; PPAP;
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摘要：
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) – classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis.
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