| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | [Founder mutation in Lynch syndrome]. | 27295708 | 2016 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. | 25197397 | 2014 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. | 25197397 | 2014 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. | 24802709 | 2014 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. | 20533529 | 2010 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | 18566915 | 2009 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Mismatch repair gene mutations in Chinese HNPCC patients. | 18931482 | 2008 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. | 16338176 | 2006 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. | 12799449 | 2003 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer. | 10923051 | 2000 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer. | 10923051 | 2000 | |||||
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 | CausalMutation | CLINVAR | Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. | 8797773 | 1996 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | ||||||||
Carcinoma
|
0.010 | GeneticVariation | BEFREE | We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A>T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732X due to premature stop codon. | 25197397 | 2014 |