|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
|
24710284 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
|
28449805 |
2017 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: identification of a novel mutation in MSH2 gene.
|
25200962 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
|
8808596 |
1996 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
|
9311737 |
1997 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
HNPCC: six new pathogenic mutations.
|
15217520 |
2004 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.
|
21598002 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.
|
12537652 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.
|
9222765 |
1997 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.
|
11772966 |
2002 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.
|
23443670 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.
|
24244552 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds.
|
10404063 |
1999 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
|
8574961 |
1996 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.
|
8581513 |
1995 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
|
26485756 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
|
8261515 |
1993 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
21642682 |
2011 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
|
24501230 |
2014 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
GeneticVariation
|
group |
CLINVAR |
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
|
10612827 |
2000 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
|
20591884 |
2010 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.900 |
CausalMutation
|
group |
CLINVAR |
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.
|
21868491 |
2012 |