Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MUTYH mutations can mimic Lynch syndrome.
|
24518836 |
2014 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results indicate that germline ASE analysis and screening for APC and MUTYH defects should be included in HNPCC diagnostic algorithms.
|
24278394 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
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 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MSH6/MUTYH heterozygote mutation carriers display a predominant HNPCC molecular tumour phenotype, with microsatellite instability and underrepresentation of G>T transversions.
|
17039270 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine this, we tested a consecutive series of 229 samples referred for HNPCC testing for the two most common MUTYH mutations in the Caucasian population.
|
18294051 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, most of the 9 patients with biallelic MYH mutations reported family histories consistent with the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), with 7 cases meeting at least 1 of the Bethesda criteria, 5 cases fulfilling 3 Bethesda criteria, and 2 cases fulfilling the Amsterdam II criteria.
|
16234049 |
2005 |