MUTYH-Associate Polyposis
|
0.200 |
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 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Individuals with ≥10 colorectal polyps have traditionally been referred for genetic diagnostic testing to identify APC and MUTYH mutations which cause FAP and MAP respectively.
|
30904095 |
2019 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in the MUTYH gene predispose individuals to MUTYH-associated polyposis (MAP), and the most commonly observed mutation in some MAP populations is Y165C.
|
30698731 |
2019 |
MUTYH-Associate Polyposis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Variants of MUTYH defective in functional activity lead to MUTYH-associated polyposis (MAP), which progresses to cancer with very high penetrance.
|
31203172 |
2019 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The importance of this mutation suppression activity in tumor suppressor genes is underscored by the association of inherited variants of MUTYH with colorectal polyposis in a hereditary colorectal cancer syndrome known as MUTYH-associated polyposis, or MAP.
|
30208271 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Characteristics of MUTYH variants in Japanese colorectal polyposis patients.
|
29330641 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Inherited DNA-Repair Defects in Colorectal Cancer.
|
29478780 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The methods described herein have not only been leveraged to provide insight into the roles of the MutY Fe-S cluster but have also been provided crucial information needed to delineate the impact of inherited variants of the human homolog MUTYH associated with a colorectal cancer syndrome known as MUTYH-associated polyposis or MAP.
|
29746241 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the prevalence of pathogenic MUTYH and NTHL1 variants in the normal population, we estimate that the frequency of the novel NTHL1-associated tumour syndrome is five times lower than that of MUTYH-associated polyposis.
|
29105096 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
High-frequency actionable pathogenic exome variants in an average-risk cohort.
|
30487145 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MUTYH hotspot variants known for Caucasians, namely p.G396D and p.Y179D, were not among the detected variants.Of five patients, two with biallelic MUTYH variants were diagnosed with MUTYH-associated polyposis, while two others had monoallelic MUTYH variants.
|
29330641 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The analysis of 1120 healthy subjects revealed 15 heterozygous carriers of recurrent MUTYH mutations, thus the expected incidence of MUTYH-associated polyposis in Russia is likely to be 1:23 000.
|
29406563 |
2018 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome.
|
28551381 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
|
28533537 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic testing from September 2002 to February 2014.
|
27829682 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Germline biallelic inactivation of MUTYH represents a familial cancer syndrome called MUTYH-associated polyposis.
|
29027306 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Finally, we touch on the insight gleaned from studies with MAP-associated MUTYH variants and recent advances in understanding the multifaceted roles of MUTYH in the cell, both in the prevention of mutagenesis and tumorigenesis.
|
28087410 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis.
|
28141798 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, by analysing a series of colorectal cancers (CRCs) using exome sequencing, we identified a particular spectrum of somatic mutations characterized by an enrichment of C > A transversions in NpCpA or NpCpT contexts in three tumours from a MUTYH-associated polyposis (MAP) patient and in two cases harbouring pathogenic germline MUTYH mutations.
|
28127763 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
|
28135145 |
2017 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MYH-associated polyposis is a recessively inherited syndrome of colorectal cancer predisposition attributed to biallelic germline mutations in the base excision repair gene MYH.
|
27145315 |
2016 |
MUTYH-Associate Polyposis
|
0.200 |
Biomarker
|
disease |
BEFREE |
APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP).
|
27705013 |
2016 |
MUTYH-Associate Polyposis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.
|
27705013 |
2016 |
MUTYH-Associate Polyposis
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |