Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
|
28805995 |
2017 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.
|
21356188 |
2011 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.
|
21618646 |
2011 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
|
18824584 |
2008 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
PMS2 mutations in childhood cancer.
|
16507833 |
2006 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
PMS2 mutations in childhood cancer.
|
16507833 |
2006 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
10037723 |
1999 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
A hPMS2 mutant cell line is defective in strand-specific mismatch repair.
|
7629132 |
1995 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Review of the basic principles of drug action.
|
2440087 |
1986 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Turcot syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|