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 |
We describe a family with MSH6-dependent Lynch syndrome and familial pancreatic cancer and other tumours (gastric and endometrial), in the absence of colorectal neoplasia.
|
31851094 |
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 |
No CRC was found during follow-up of patients with Lynch syndrome carrying pathogenic variants in MSH6; advanced neoplasia developed over shorter follow-up time periods in patients with pathogenic variants in MLH1 or MSH2.
|
31470178 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
|
30128536 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By confirming that the tumor was not dMMR and not MSI-H, it was concluded that his oral pharynx cancer was sporadic, rather than LS-related, and other family members carrying the mutated MSH6 are unlikely to be at above-average risk for the development of oral cancers, as a result of the LS.
|
31445773 |
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 |
Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS.
|
31297992 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome.
|
30974197 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that even a partial expression decrease in MLH1, MSH2, or MSH6 suggests that heterozygous LS mutation carriers have MMR malfunction in constitutive tissues.
|
30946512 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
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
|
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 |
The cases demonstrated diffuse MLH1 loss associated with BRAF mutations and MLH1 promoter hypermethylation in keeping with sporadic dMMR, with presumed additional double hit mutations in MSH2+/-MSH6 rather than underlying LS.
|
30723092 |
2019 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
Colon tissues were collected from patients with advanced adenomas, ≥4 nonadvanced adenomas, or CRC, and analyzed by immunohistochemistry to identify patients with loss of mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, or PMS2): a marker of Lynch syndrome.
|
30063919 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
|
29360161 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome.
|
29575718 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum.
|
30161022 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
In humans, the importance of MMR is underscored by the discovery that a single mutation in any 1 of 4 genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS).
|
29286535 |
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 germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2.
|
29405992 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.800 |
Biomarker
|
disease |
BEFREE |
An expression pattern revealing absent MSH2 and intact MSH6 is not expected, but could result in failed Lynch syndrome detection.
|
29967423 |
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 |
Prediction of MLH1, MSH2, and MSH6 (PREMM<sub>1,2,6</sub>) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome.
|
28668538 |
2018 |