Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Pathogenic variants in mismatch repair (MMR) genes (<i>MLH1, MSH2</i>, <i>MSH6</i> and <i>PMS2</i>) increase risk for Lynch syndrome and related cancers. 31391288

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Lynch syndrome (LS) is responsible for 3-5% of CRCs and develops due to mutations in DNA mismatch repair (MMR) genes. 31845022

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers. 31616036

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Mutations in MMR genes disrupt their mismatch repair function, cause genome instability and lead to increased risk of cancer in the mutation carriers as represented by Lynch Syndrome. 31830689

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE LS-related mismatch repair (MMR) genes were analyzed in 16 patients, who were forwarded to genetic testing due to strong clinical features of LS and had high-level microsatellite instability (MSI-H) in the tumor (n = 14) or unknown MSI status (n = 2). 31491536

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 Biomarker BEFREE Interpretation of missense variants remains a major challenge for genetic diagnosis, even in well-known genes such as the DNA-mismatch repair (MMR) genes involved in Lynch syndrome. 31433521

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). 31220642

2020

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 Biomarker BEFREE Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is an established test to identify Lynch syndrome (LS) in patients with colorectal cancer and is being increasingly used to identify LS in women with endometrial and/or nonserous ovarian cancer (OC). 30864976

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 AlteredExpression BEFREE Testicular cancer literature focuses on characterizing MSI and MMR gene expression as it relates to chemotherapy sensitivity; outcomes suggest a potential avenue to investigate its relationship to Lynch syndrome. 31045926

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 AlteredExpression BEFREE Loss of expression of mismatch repair (MMR) proteins is frequently observed in sebaceous skin lesions and can be a herald for Lynch syndrome. 30506759

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Second, when we focused on Lynch syndrome (LS) with additional selected patients, 45 were identified to carry pathogenic mutations in MMR genes, with a higher frequency found in MSH2 and MSH6. 31054147

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 Biomarker BEFREE Inherited epimutations of Mismatch Repair (MMR) genes are responsible for Lynch Syndrome (LS) in a small, but well defined, subset of patients. 30916491

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Patients with Lynch syndrome have up to a 24% risk of developing ovarian carcinoma, but universal mismatch repair (MMR) protein testing of ovarian carcinomas is not standard practice in most institutions. 30256257

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Many colorectal cancers (CRCs) that exhibit microsatellite instability (MSI) are not explained by MLH1 promoter methylation or germline mutations in mismatch repair (MMR) genes, which cause Lynch syndrome (LS). 30989425

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Tumoral MMR deficiency predicted for the presence of germline MMR gene mutations in patients with HNPCC-suspicion (46/136 vs. 0/56 in patients with and without MMR deficiency, respectively). 30927264

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. 30446972

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 Biomarker BEFREE These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome. 31204389

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Lynch syndrome (LS) predisposes patients to cancer and is caused by germline mutations in the DNA mismatch repair (MMR) genes. 31237724

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Lynch syndrome (LS) is an autosomal dominant cancer predisposition condition caused by germline heterozygous mutations in mismatch repair (MMR) genes. 31056861

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE The most common underlying mechanism is a constitutional defect of the mismatch repair (MMR) genes that cause Lynch syndrome (LS). 31292797

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 Biomarker BEFREE Microsatellite instability (MSI), which reflects loss of DNA mismatch repair (MMR) activity, and immunohistochemistry (IHC) for MMR proteins are employed as screening examinations for Lynch syndrome (LS). 31307113

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Therefore, if sporadic tumors of a particular tissue of origin are only rarely dMMR, identifying a tumor as dMMR in a known LS family member suggests that, in that particular family, inheritance of the mutated MMR gene does predispose to that malignancy. 31445773

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE The criteria for the clinical diagnosis of LS and the procedures of the genetic testing for identification of pathogenetic mutations carriers in MMR genes have long been known. 30867733

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Although germline mutations of mismatch repair (MMR) genes (Lynch syndrome) are not typically associated with cholangiocarcinomas, the US Food and Drug Administration recently approved the use of pembrolizumab in patients with advanced solid tumors at all sites that show MMR deficiency or associated high microsatellite instability. 31844887

2019

Entrez Id: 4360
Gene Symbol: MRC1
MRC1
Hereditary Nonpolyposis Colorectal Cancer
0.100 GeneticVariation BEFREE Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes. 31366136

2019