|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the pathogenicity of 20 such mutations (6 in MLH1, 4 in MSH2, and 7 in MSH6) found in Spanish patients suspected of Lynch syndrome.
|
23523604 |
2013 |
|
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 |
About 24% of the mutations identified in Lynch syndrome are missense substitutions and the frequency of missense variants in MSH6 is the highest amongst these MMR genes.
|
23621914 |
2013 |
|
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 |
Genetic testing revealed deleterious germline mutation of MSH6, which was compatible with Lynch syndrome.
|
27928858 |
2017 |
|
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 recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.
|
24040339 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Lynch syndrome due to a mutation in MSH6 was therefore established.
|
28460341 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6.
|
19685281 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Most recently, MYH-associated polyposis (MAP) and an "atypical Lynch syndrome" related to the presence of MSH6 mutations have been linked to an increased risk of CRC.
|
17920897 |
2007 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.
|
25318681 |
2015 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, 3 cases of Lynch syndrome-associated colorectal carcinoma due to germline MSH6 mutation revealed complete loss of MSH6 expression with discordant positive Ki-67 staining in the tumor cells.
|
28232158 |
2017 |
|
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 |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
|
28466842 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Families suspected of Lynch syndrome (n = 614) were analysed for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2.
|
17453009 |
2007 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Evidence from Lynch syndrome indicates that pathogenic germline mutations in MSH6 are typically microsatellite stable and have a clinical presentation that differs from that associated with germline mutations in MSH2 and/or MLH1.
|
28323777 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC).
|
26848797 |
2016 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Truncating mutations MSH6*c.3984_3987dupGTCA and MSH6*c.3959_3962delCAAG cause Lynch syndrome and are founder mutations in Ashkenazi Jews.
|
21155762 |
2011 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Carriers of MSH6 mutations constitute less than 10% of the total of cases with Lynch syndrome and present with a weaker clinical phenotype, including low levels of microsatellite instability (MSI-L) in colorectal tumors.
|
25432668 |
2015 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The index case with Lynch syndrome harbours a heterozygous mutation in the mismatch repair MSH6 gene.
|
27456091 |
2016 |
|
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 |