Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome.
|
30974197 |
2019 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS.
|
31297992 |
2019 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, isolated loss of MSH6 or PMS2 protein predicts LS.
|
30877237 |
2019 |
Lynch Syndrome
|
0.700 |
PosttranslationalModification
|
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
However, MSH1, MSH2, MSH6 and PSM2, proteins that are associated with Lynch Syndrome, were expressed at normal levels.
|
29849799 |
2018 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
|
29345684 |
2018 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome.
|
29758216 |
2018 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We report the case of a woman with an early-onset endometrial adenocarcinoma who was suspected to be affected with Lynch syndrome based on tumor dMMR phenotype (MSI associated with loss of expression of MSH2 and MSH6 proteins).
|
28819700 |
2018 |
Lynch Syndrome
|
0.700 |
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 |
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAF <sup>wild type</sup> phenotype.
|
28608265 |
2018 |
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Using MSI burden and bi-allelic alteration status, we reclassify two variants of unknown significance in MSH6 as potentially pathogenic for Lynch syndrome.
|
30217226 |
2018 |