|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome.
|
29120461 |
2018 |
|
Lynch Syndrome
|
0.700 |
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 |
|
Lynch Syndrome
|
0.700 |
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 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing in one case with MSH2 and MSH6 deficiency confirmed the diagnosis of Lynch syndrome with MSH2 mutation.
|
29400022 |
2018 |
|
Lynch Syndrome
|
0.700 |
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 |
|
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 diagnosis of Lynch syndrome due to a mutation in MSH6 was therefore established.
|
28460341 |
2017 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
We conclude that caution should be exercised in counseling for MSH6-associated LS family members.
|
28481244 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.
|
27468915 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2.
|
28528517 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1, MSH2, and MSH6.
|
28489507 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6, and PMS2.
|
28494185 |
2017 |
|
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
MLH1 and PMS2 testing appear to have little utility in upper tract urothelial carcinoma; however, mismatch repair protein loss of MSH2 and/or MSH6 by immunohistochemistry seems relatively sensitive and specific for identifying patients with potential Lynch syndrome.
|
27713421 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present 2 cases of OCS; one arising in a patient with a pathogenetic BRCA1 mutation and the other in a woman affected by Lynch Syndrome (LS) carrying a MSH6 germline mutation.
|
27167672 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Out of the 11 patients, 9 (0.7%) were finally diagnosed as having Lynch syndrome; the responsible genes included MLH1 (n = 1), MSH2 (n = 4), EPCAM (n = 1) and MSH6 (n = 3).
|
27920101 |
2017 |
|
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identified 13 ambiguous cases that did not fully meet MSI criteria ('borderline' cases, B-MSI), which were mainly represented by MSH2/MSH6-deficient and Lynch syndrome cases.
|
28416640 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10<sup>-7</sup>).
|
28514183 |
2017 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
|
28531214 |
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 |
The index case with Lynch syndrome harbours a heterozygous mutation in the mismatch repair MSH6 gene.
|
27456091 |
2016 |
|
Lynch Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
MMR protein expression was retained in 19 of 20 cases with loss of MSH6 staining in 1 patient with Lynch syndrome.
|
26685087 |
2016 |
|
Lynch Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed.
|
27069191 |
2016 |