FBXO11, F-box protein 11, 80204

N. diseases: 93; N. variants: 619
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). 28460341 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Longitudinal analysis of treatment-induced genomic alterations in gliomas. 28153049 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. 28765196 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series. 28283864 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. 28481244 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer. 27965287 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6. 28528517 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort. 29212164 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing. 28502729 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016