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 |
Biomarker
|
group |
BEFREE |
A total of 369 families with at least one carrier of a mutation in a MMR gene (133 MLH1, 174 MSH2, 35 MSH6 and 27 PMS2) were ascertained via population cancer registries or via family cancer clinics in Australia, New Zealand, Canada, and USA.
|
26077226 |
2015 |
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 |
Biomarker
|
group |
BEFREE |
Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood.
|
26544533 |
2016 |
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 |
AlteredExpression
|
group |
BEFREE |
MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers and was particularly strong in cancers with advanced pathological tumor stage (P < 0.0001 each), high Gleason grade (P < 0.0001 each), nodal metastasis (P ≤ 0.0083) and early biochemical recurrence (P < 0.0001).
|
27803051 |
2017 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer.
|
15872200 |
2005 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
In addition, we used an in vitro model of defective MMR to demonstrate that microsatellite instability can be induced in an otherwise stable cancer cell line by transfection with a dominant negative fragment of PMS2.
|
12684669 |
2003 |
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 |
PosttranslationalModification
|
group |
BEFREE |
When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer.
|
29783979 |
2018 |
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 |
Biomarker
|
group |
BEFREE |
Biallelic germline mutations of Constitutional mismatch repair-deficiency syndrome (CMMR-D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy.
|
21674763 |
2011 |
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 |
Biomarker
|
group |
BEFREE |
Inherited mutations in 1 of 4 known mismatch repair genes (MLH1, MSH2, MSH6, PMS2) are associated with various cancer risks collectively referred to as Lynch syndrome.
|
20495087 |
2010 |
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 |