Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present a case that developed metastatic CRC, which we diagnosed as LS in association with a very rarely seen PMS2 and MSH6 germline mutation.
|
31845022 |
2020 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, 17/23 (74%) subjects carried LS-associated gene variants (MLH1: 10; MSH2: 4; MSH6: 2; PMS2: 1), with 2 alleles (MLH1 c.677G > T and MSH2 с.1906G > C) detected twice.
|
31491536 |
2020 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely known cancer risks.
|
31337882 |
2020 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers.
|
31616036 |
2020 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Four g.MMR genes (MLH1, MSH2, MSH6, and PMS2) were analyzed by next generation sequencing in 1058 cancer patients (614 male, 444 female; mean age 65.6 years) without past diagnosis of LS.
|
31386297 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study did not confirm previous reports of genetic anticipation in PMS2-associated Lynch syndrome.
|
30824524 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is an autosomal dominant inherited disorder that is associated with an increased predisposition to certain cancers caused by loss-of-function mutations in one of four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2).
|
30653781 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS.
|
30877237 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small number of LS families segregate a PMS2 mutation.
|
30946512 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
We highlight an <i>MLH1</i> variant in the colonic adenomas in an obligate Lynch syndrome carrier that resulted in PMS2 protein loss in the absence of mutations of the <i>PMS2</i> gene.
|
31649038 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers.
|
31056861 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fifty-six subjects had pathogenic variants associated with Lynch syndrome (25 with mutations in MSH2, 24 with mutations in MLH1, 5 with mutations in MSH6, and 2 with mutations in PMS2) and 10 subjects had pathogenic variants associated with familial adenomatous polyposis.
|
29146522 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
In a genetic analysis of 84 colorectal tumors, we found tumors from patients with PMS2-associated Lynch syndrome to be distinct from colorectal tumors associated with defects in other mismatch repair genes.
|
29758216 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
|
29345684 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3.
|
29568967 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.
|
28933000 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Lynch syndrome (LS) patients with isolated PMS2 loss in the colon cancer, while intact MMR in the prostate cancer, are exceedingly rare.Herein, we report such a case.
|
30061258 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup>/normal MLH1 sequence.
|
28608265 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL.
|
30268105 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
PMS2 and MSH6 protein expression in metastatic and matched primary tumor was assessed using clinically validated immunohistochemistry methods for Lynch syndrome screening.
|
30340772 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SNP association study in PMS2-associated Lynch syndrome.
|
29147930 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2.
|
29575718 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These methods enable efficient and sensitive Lynch syndrome screening for 3' PMS2 copy-number mutations and may be applied similarly to other genomic regions with highly homologous pseudogenes.
|
29792936 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
PosttranslationalModification
|
disease |
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2.
|
29405992 |
2018 |