Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
|
25452455 |
2015 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Lynch Syndrome: A Primer for Urologists and Panel Recommendations.
|
25711197 |
2015 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
|
23408351 |
2013 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.
|
25070057 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.
|
25003300 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.
|
23535968 |
2013 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.
|
11598466 |
2001 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.
|
7937795 |
1994 |
ovarian neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.
|
7937795 |
1994 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.
|
9774676 |
1998 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
|
8521394 |
1995 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
|
10469597 |
1999 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
|
12124176 |
2002 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
|
15849733 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
|
17720936 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |