Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.010 Biomarker disease BEFREE For gynecologists, knowledge of cancer susceptibility genes such as BRCA1 and BRCA2 and the genetic syndrome hereditary nonpolyposis colorectal cancer (Lynch syndrome II) affects how patients are screened for ovarian and endometrial cancers. 16582132 2006
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 GeneticVariation disease BEFREE We examined alterations of p16 in 78 primary genital tumors (42 testicular, 21 ovarian and 15 endometrial cancers) and mononuclear cells from 2 patients with Lynch syndrome II as well as 5 testicular tumor cell lines by single-strand conformation polymorphism (SSCP) and Southern blot hybridization. 7563391 1995
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
0.010 GeneticVariation disease BEFREE We examined alterations of p16 in 78 primary genital tumors (42 testicular, 21 ovarian and 15 endometrial cancers) and mononuclear cells from 2 patients with Lynch syndrome II as well as 5 testicular tumor cell lines by single-strand conformation polymorphism (SSCP) and Southern blot hybridization. 7563391 1995
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 CausalMutation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Cancer risk in Lynch Syndrome. 23604856 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. 19659756 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 CausalMutation disease CLINVAR Functional analysis of HNPCC-related missense mutations in MSH2. 18822302 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Concise handbook of familial cancer susceptibility syndromes - second edition. 18559331 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 CausalMutation disease CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 GeneticVariation disease CLINVAR Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. 15943554 2005
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 Biomarker disease BEFREE Recognizing the Lynch 2 syndrome (the existance of multiple HNPCC related cancers in a pedigree), we used polymerase chain reaction followed by direct sequencing to screen the coding regions of both the MSH2 and the MLH1 genes for germline mutations in DNA from the patient. 10874318 2000
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.110 CausalMutation disease CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676 1998
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.300 Biomarker disease CLINGEN Inherited DNA-Repair Defects in Colorectal Cancer. 29478780 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
0.300 Biomarker disease CLINGEN The depletion of ATM inhibits colon cancer proliferation and migration via B56γ2-mediated Chk1/p53/CD44 cascades. 28093285 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.300 Biomarker disease CLINGEN A pathology atlas of the human cancer transcriptome. 28818916 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
0.300 Biomarker disease CLINGEN Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
0.300 Biomarker disease CLINGEN Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. 27713038 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
0.300 Biomarker disease CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.300 Biomarker disease CLINGEN Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.300 Biomarker disease CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ
0.300 Biomarker disease CLINGEN Tumor Suppressor PTPRJ Is a Target of miR-155 in Colorectal Cancer. 28316102 2017
Entrez Id: 22909
Gene Symbol: FAN1
FAN1
0.300 Biomarker disease CLINGEN Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. 26797144 2016