|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mismatch repair deficiency is strongly associated with responsiveness to anti-PD-1 in other cancers and can be detected using immunohistochemistry for MLH1, MSH2, MHS6, and PMS2.
|
31702999 |
2020 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Herein, we investigate the clinical meaning of MMR deficiency in breast cancer by immunohistochemical assessment of MSH2, MSH6, MLH1 and PMS2 on a large series of breast cancers linked to detailed biomarker and long-term outcome data.
|
31522348 |
2020 |
|
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 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Of note 8/9 (89%) IHC positive cases were both MMRd (all showing MLH1/PMS2 loss) and lacked BRAFV600E mutation.
|
31792356 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Concerning the background endometrium, two cases showed partial loss of MLH1 and PMS2, corresponding to adjacent EC lesions, suggesting that MMR deficiency may already be present in the background endometrium.
|
31307113 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
|
30478739 |
2019 |
|
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 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
- Ninety-three colorectal carcinomas with isolated PMS2 loss by immunohistochemistry and 193 with other forms of mismatch repair deficiency were identified.
|
29336605 |
2018 |
|
Turcot syndrome (disorder)
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Lesions of both sites showed a DNA mismatch repair deficiency with immunohistochemical loss of MLH1 and PMS2 expression without MLH1 promoter hypermethylation.
|
29124495 |
2018 |
|
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 |