|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
|
31433521 |
2020 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MSH2 c.2634+1G>C mutation was not reported previously as LS associated.
|
31437759 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
For patients with Lynch Syndrome (LS) (formerly known as hereditary nonpolyposis colorectal cancer or HNPCC), inheritance of one of several mutated mismatch repair genes (MMR) results in an increased risk for a variety of malignancies including colon, rectal, endometrial, urinary tract, gastric, small bowel and others [1].
|
31445773 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We found a novel large EPCAM-MSH2 duplication associated with LS and the presence of LOHs in regions containing numerous tumor suppressors, raising the hypothesis that these alterations could contribute to cancer susceptibility.
|
31655866 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
Herewithin we report on a 76 years-old male patient heterozygous for a pathogenic MSH2 missense substitution who presented with a striking cutaneous phenotype in the absence of typical LS visceral tumors.
|
31292797 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report a case of a 62 year old man, diagnosed with MSH2-Lynch syndrome, who underwent successful eFTR treatment of an early (pT1) colon cancer located in the ascending colon, with no signs of recurrence 12 months after treatment.
|
31111311 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Second, when we focused on Lynch syndrome (LS) with additional selected patients, 45 were identified to carry pathogenic mutations in MMR genes, with a higher frequency found in MSH2 and MSH6.
|
31054147 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that MSH2 c.2635-3delC affects normal splicing and might be a cause of Lynch syndrome.
|
30882153 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.
|
31248416 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four couples consented to secondary findings and in one case, the father was found to have an MSH2 mutation associated with Lynch syndrome.
|
30629328 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS.
|
31297992 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this case-report we describe the case of a 33-year-old woman with LS and a proven MSH2 germline mutation, presenting with a SCC on the right cheek.
|
30560308 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The MSH2 mutation c.2152C>T, p.(Gln718*), has occasionally been described in Lynch families worldwide, including in Portuguese Lynch syndrome families.
|
30968502 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
Being located immediately upstream of the MSH2 gene, EPCAM abnormalities can affect MSH2 and cause Lynch syndrome.
|
31273487 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
|
30376427 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings suggest a large proportion of young black SA CRC patients develop via the LS pathway due to earlier age onset and predominant MSH2/6 protein loss.
|
31636305 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
|
31101557 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
|
31237724 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 56-year-old female with LS due to MSH2 and MSH6 mutations presented with panhypopituitarism and a sellar mass.
|
31491579 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
Biomarker
|
disease |
BEFREE |
This case study is of a MSH2-deficient patient with LS with metachronous urothelial and colon cancer, who received pembrolizumab treatment for 8 months.
|
31612019 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, MSH2 mutations reported in Lynch syndrome (LS) kindred have been introduced into HeLa cells using the CRISPR/Cas9 system.
|
30802454 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing was performed on three MMR-deficient sebaceous lesions from individuals with MSH2 gene mutations (Lynch syndrome) and three MMR-proficient sebaceous lesions from individuals without Lynch syndrome with the aim of characterizing the tumor mutational signatures, somatic mutation burden, and microsatellite instability status.
|
31162827 |
2019 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The 138 analyzable patients were all proven mismatch repair mutation carriers for LS (MLH1 = 33%, MSH2 = 47%, MSH6 = 15%, PMS2 = 4%, and EPCAM = 1%).
|
31498154 |
2019 |