|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition to standard indications for MUTYH testing, our data provide evidence to support consideration of MAP in the differential diagnosis for some individuals with fewer than 10 polyps, depending on other personal and/or family history, as well as for individuals suspected to have Lynch syndrome or FAP.
|
30604180 |
2019 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings revealed that polymorphisms of DNA repair genes that include NUDT1, ERCC2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population.
|
29664240 |
2018 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively.
|
30324682 |
2018 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thanks to this strategy, we detected overlapping phenotypes (e.g., MUTYH biallelic mutations mimicking Lynch syndrome), mosaic alterations and complex SVs such as a genomic deletion involving the last BMPR1A exons and PTEN, an Alu insertion within MSH2 exon 8 and a mosaic deletion of STK11 exons 3-10.
|
29967336 |
2018 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Forty-eight patients (10.7%) had MMR-deficient tumors, and 40 patients (83.3%) had at least 1 gene mutation: 37 had Lynch syndrome (13, MLH1 [including one with constitutional MLH1 methylation]; 16, MSH2; 1, MSH2/monoallelic MUTYH; 2, MSH6; 5, PMS2); 1 patient had the APC c.3920T>A, p.I1307K mutation and a PMS2 variant; 9 patients (18.8%) had double somatic MMR mutations (including 2 with germline biallelic MUTYH mutations); and 1 patient had somatic MLH1 methylation.
|
27978560 |
2017 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population-based, Australia-wide colorectal cancer study.
|
28197815 |
2017 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An additional 9 individuals carried mutations in other genes linked to high lifetime risks of cancer (5 had mutations in APC, 3 had bi-allelic mutations in MUTYH, and 1 had a mutation in STK11); all of these patients met NCCN criteria for Lynch syndrome testing.
|
25980754 |
2015 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MUTYH mutations can mimic Lynch syndrome.
|
24518836 |
2014 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The obtained results further justify the inclusion of MUTYH in the diagnostic strategy for Lynch syndrome-suspected patients.
|
24953332 |
2014 |
|
Lynch Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.
|
22278153 |
2012 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analyses included completion of APC gene exon 16 sequencing, analysis for APC gene copy number variations (deletions or duplications), MUTYH gene sequencing, and microsatellite instability in CRC patients fulfilling "Bethesda" (laboratory investigation) criteria for Lynch syndrome.
|
21287799 |
2010 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Adenomatous Polyposis) or secondary to MUTYH germline alterations (MAP, MUTYH associated Polyposis), and Lynch syndrome, associated with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6 and PMS2).
|
19931546 |
2010 |
|
Lynch Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DNA mismatch repair genes are associated with high risk of digestive malignancies [hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome]; mutations of APC and MYH are associated with classic and attenuated familial adenomatous polyposis (FAP).
|
18629513 |
2008 |