|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Inherited mutations in 1 of 4 known mismatch repair genes (MLH1, MSH2, MSH6, PMS2) are associated with various cancer risks collectively referred to as Lynch syndrome.
|
20495087 |
2010 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
|
20937110 |
2010 |
|
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%).
|
16283884 |
2005 |
|
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 |
Biomarker
|
disease |
CLINGEN |
Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells.
|
7604264 |
1995 |
|
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 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer.
|
15872200 |
2005 |
|
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Most tumors that lose MSH6 will not be detected in screens for MSI; CRC screening might be modified to identify more patients with Lynch syndrome.
|
20655395 |
2010 |
|
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 |
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 |
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 |