Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In comparison with the mismatch repair genes MLH1 and MSH2, the genes MSH6 and PMS2 are relatively understudied with respect to cancer risk.
|
19793570 |
2009 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
As a result, a dominantly inherited cancer predisposition has not been a feature reported in families with PMS2 mutations.
|
16507833 |
2006 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Using The Cancer Genome Atlas RNA-seq datasets with the greatest MSI-H incidence, i.e. those from colon (n = 208), stomach (n = 269), and endometrial (n = 241) cancers, we trained an algorithm to predict tumor MSI from under-expression of the mismatch repair genes MLH1, PMS2, MSH2, and MSH6 and from 10 additional genes with strong pan-cancer associations with tumor hypermutation.
|
30665466 |
2019 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our findings show the association between bi-allelic germline PMS2 mutations and severe childhood-onset gastrointestinal manifestations, and support the notion that patients with early-onset gastrointestinal adenomas and cancer should be investigated for CMMR-D syndrome.
|
21376568 |
2011 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
WES revealed heterogeneous genetic background among CVID patients with tumors, identifying gene variants associated with primary immunodeficiencies (such as CTLA4, PIK3CD, PMS2) and/or increased cancer susceptibility (including BRCA1, RABEP1, EP300, KDM5A).
|
30723478 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Nineteen patients (22.4%) carried a deleterious germline mutation in a cancer susceptibility gene: BRCA1 (7), BRCA2 (8), PALB2 (1), ATM (1), MSH2 (1) and PMS2 (1).
|
28528518 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed.
|
18602922 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer.
|
18709565 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous germline mutations in the mismatch repair gene PMS2 predispose carriers for Lynch syndrome, an autosomal dominant predisposition to cancer.
|
22461402 |
2012 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We propose to take a retinoic acid chemoprevention into account in children with proven biallelic PMS2 mismatch repair mutations being at highest risk concerning the development of a malignancy.
|
17387511 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lynch syndrome (MSH2, MLH1, MSH6, PMS2), by contrast, is associated primarily with cancer risk.
|
26169059 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cancer data from 1980 to 2007 were obtained from the Familial Gastrointestinal Cancer Registry in Toronto for 321 persons with known MMR mutations: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1); mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2); mutS homolog 6 (E. coli) (MSH6); and PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2).
|
22883484 |
2013 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The carcinomas showed microsatellite instability in the presence of MLH1, PMS2, MSH2 and MSH6 proteins, indicating that the variant c.1A>G leads to an alternative protein with reduced activity that is retained in the tumours.Our data suggest that the MSH2 variant c.1A>G (p.Met1?) should not be considered as a regular pathogenic mutation that leads to a strongly increased cancer risk, though it possibly contributes to a more severe phenotype when combined with a truncating mutation on the other allele.
|
18781192 |
2009 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers.
|
25512458 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous PMS2 mutation carriers were at small increased risk for colorectal and endometrial cancer but not for any other Lynch syndrome-associated cancer.
|
30161022 |
2018 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our genotype-phenotype study of c.2002A>G illustrates that an extremely low level of PMS2 expression likely delays cancer onset, a feature that could be exploited in cancer preventive intervention.
|
25691505 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in the DNA mismatch repair gene PMS2 underlie the cancer susceptibility syndrome, Lynch syndrome.
|
26320870 |
2015 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
|
18273873 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1, MSH2, MSH6, and PMS2) encoding mismatch repair proteins.
|
31273487 |
2019 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2.
|
18270343 |
2008 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The inactivation of an MMR gene (MSH2, MSH6, MLH1, or PMS2) with an inherited mutation causes Lynch syndrome (LS), a dominant susceptibility to cancer.
|
22581703 |
2012 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This is the first report of the founder PMS2 mutation - NM_000535.5:c.1500del (p.Val501TrpfsTer94) in exon 11 and its associated cancers in this family.
|
28381238 |
2017 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2).
|
28562508 |
2017 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MLH1 mutation carriers had a higher frequency of colorectal cancers whereas MSH2, MSH6 and PMS2 mutation carriers had more extracolonic cancers although these differences were not statistically significant.
|
22714864 |
2012 |