Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE On reviewing the archived MLH1-IHC slides, we observed the same dot-like pattern in two CRCs; in both cases the M1-clone had been used. 31402167

2020

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Lynch syndrome accounts for 3-5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. 31745674

2020

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Mutations in the adenomatous polyposis coli (APC) gene initiate the majority of both sporadic and hereditary colorectal cancers (CRC) and around 30% of these mutations are nonsense mutations. 31283021

2020

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Current clinical guidelines recommend mutation analysis for select codons in KRAS and NRAS exons 2, 3, and 4 and BRAF V600E to guide therapy selection and prognostic stratification in advanced colorectal cancer. 31589789

2020

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE APC gene pathogenic variants are characterized by a lifetime risk of nearly 100% to develop a colorectal carcinoma. 31802619

2020

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Immunohistochemistry (IHC) for DNA mismatch repair proteins MLH1, PMS2, MSH2, and MSH6 is used for microsatellite instability (MSI) screening in colorectal carcinoma (CRC) and endometrial carcinoma (EC). 31402167

2020

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. 31209889

2020

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Colorectal cancer (CRC) development is characterized by the stepwise accumulation of mutations over time, of which mutations in the tumor suppressor APC are often very early to occur. 30799131

2020

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. 29651783

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The absence of BRAF V600E mutation separates LLS colorectal carcinomas from MLH1-methylated colorectal carcinomas with CIMP-positive phenotype. 30575961

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE In this retrospective study for quality assessment of a next-generation sequencing assay, we examined BRAF, KRAS, and NRAS genes within the mitogen-activated protein kinase (MAPK) pathway and the PIK3CA gene within the phosphatidylinositol 3-kinase (mTOR) pathway in 744 CRC specimens submitted to our clinical diagnostics laboratory. 30481508

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE IMPLICATIONS: The tumor-suppressive function of APC, the most frequently mutated gene in colorectal cancer, is mainly attributed to its role in β-catenin/Wnt signaling. 31160382

2019

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE We transiently expressed MLH1 or MSH2 variants in MLH1- or MSH2-null human colorectal cancer cell lines (HCT116 or LoVo), respectively. 30998989

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE We have used SW48 and LIM1215 human colon cancer cell lines, quadruple wild-type for KRAS, NRAS, BRAF and PI3KCA genes, and their HER2-amplified (LIM1215-HER2 and SW48-HER2) derived cells to perform in vitro and in vivo studies in order to identify novel therapeutic strategies in HER2 gene amplified human colorectal cancer. 31164152

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Of the 363 patients in the initial cohort, 11(3.0%) harbored oncogenic fusions and were all mismatch repair-deficient colorectal carcinomas with hypermethylated MLH1 and wild-type BRAF and KRAS, comprising 55% (11/20) of this subgroup. 30723297

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE Mutational status for KRAS, NRAS, and BRAF genes should be performed on all colorectal carcinoma (CRC) specimens in order to guide targeted therapy selection for metastatic disease. 31290252

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE We compared the development of (advanced) adenomas and CRC among patients with pathogenic variants in the DNA mismatch repair genes MLH1 (n=55), MSH2 (n=44), MSH6 (n=143), or PMS2 (n=22) over 1836 years of follow-up (median follow-up of 6 years per patient). 31470178

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 Biomarker BEFREE In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity. 30613919

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Colorectal cancers (CRCs) initiate through distinct mutations, including in APC pathway components leading to tubular adenomas (TAs); in BRAF, with epigenetic silencing of CDX2, leading to serrated adenomas (SAs); and in the DNA mismatch repair machinery driving microsatellite instability (MSI). 30716341

2019

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). 30730459

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability. 31386297

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE These tumors are less likely to have microsatellite instability than CRC with a V600E BRAF mutation and often harbor a KRAS or NRAS mutation. 31185985

2019

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Evaluation of the Idylla KRAS and NRAS mutation test in colorectal cancer tissue. 31207216

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE One of the major characteristics of CRC is enhanced Wnt signaling caused by loss-of-function mutations in the adenomatous polyposis coli (APC) gene. 30867802

2019

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 AlteredExpression BEFREE WNT signaling activation in colorectal cancers (CRCs) occurs through APC inactivation or β-catenin mutations. 31804558

2019