APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Lynch Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. 30324682 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE This may be because Lynch Syndrome cancers commonly arise in colorectal adenomas already bearing the APC mutation, whereas sporadic microsatellite unstable colorectal cancers arise from serrated polyps typically lacking APC mutation, decreasing the selection pressure on other WNT signaling related loci in Lynch syndrome. 28573495 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE Recently, we reported that in difficult cases finding pathogenic APC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome. 29124495 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE APC gene mutations and Lynch syndrome were excluded in the relevant cases according to accepted clinical criteria. 25822476 2015
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE We asked whether in Lynch syndrome biallelic inactivation of MMR genes occurred at a similar frequency to that of APC gene, and whether MMR inactivation resulted in detectable lesions within the intestinal mucosa. 22552011 2012
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 Biomarker disease BEFREE However, ZEB1 is not expressed in the epithelium of hereditary forms of CRCs that carry wild-type APC and where β-catenin is excluded from the nucleus (Lynch syndrome). 22080605 2011
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE It is well known that germ line mutations in the cis-element of tumor suppressor genes such as mismatch repair (MMR) genes, the adenomatous polyposis coli (APC) gene and the E-cadherin (CDH1) gene are involved in Lynch syndrome, familial adenomatous polyposis and hereditary diffuse gastric cancer, respectively. 21134075 2011
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE Analyses included completion of APC gene exon 16 sequencing, analysis for APC gene copy number variations (deletions or duplications), MUTYH gene sequencing, and microsatellite instability in CRC patients fulfilling "Bethesda" (laboratory investigation) criteria for Lynch syndrome. 21287799 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Adenomatous Polyposis) or secondary to MUTYH germline alterations (MAP, MUTYH associated Polyposis), and Lynch syndrome, associated with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6 and PMS2). 19931546 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE Mutations in DNA mismatch repair genes are associated with high risk of digestive malignancies [hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome]; mutations of APC and MYH are associated with classic and attenuated familial adenomatous polyposis (FAP). 18629513 2008
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 GeneticVariation disease BEFREE This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. 15264268 2004
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.400 Biomarker disease CTD_human The molecular basis of Turcot's syndrome. 7661930 1995