|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
CTD_human |
Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.
|
15987719 |
2005 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the human MYH gene are associated with recessive inheritance of colorectal adenomatous polyposis (MAP).
|
17081686 |
2007 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
|
16134147 |
2005 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Homozygous MUTYH mutation accounts for approximately 10% of Japanese patients with adenomatous polyposis.
|
18422726 |
2008 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MUTYH mutations were only found in patients with multiple adenomatous polyposis (7 out of 22 (32%)).
|
16941501 |
2006 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Patients were grouped according to genotypes: 0, unknown mutation; 1, adenomatous polyposis coli (APC) 0-178 (and 312-412 of exon 9); 2, APC >1550; 3, APC 179-1249; 4, APC 1250-1549; and 5, MutYH.
|
21696383 |
2012 |
|
Adenomatous Polyposis Coli
|
0.600 |
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 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In humans, MUTYH germline mutations are associated with a recessive form of familial adenomatous polyposis and colorectal cancer predisposition (MUTYH-associated polyposis, MAP).
|
20418187 |
2010 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
Screening of the APC and human mutY homolog (MUTYH) genes for germline mutations was conducted by direct polymerase chain reaction (PCR) sequencing.
|
24664542 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.
|
15188161 |
2004 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
MYH is a new gene responsible for about 1.4% of all adenomatous polyposis and about 20% of adenomatous polyposis without APC mutation identified.
|
17122612 |
2006 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of this work is therefore to determine the frequency of APC and MUTYH mutations among FAP families from two Spanish populations.
|
19531215 |
2009 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
There were only a few, but definitive dissimilarities between APC- and MUTYH-associated FAP in our cohort: the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation.
|
26446593 |
2016 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis.
|
15761860 |
2005 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP.
|
18425378 |
2008 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Individuals with MYH-associated polyposis have biallelic mutations in MYH, a base excision repair gene, and are negative for germline mutations in the APC gene.
|
15236166 |
2004 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study enlarges the genotype-phenotype correlations of familial adenomatous polyposis and suggests that messenger alterations could be responsible for a subset of familial adenomatous polyposis cases without germ-line adenomatous polyposis coli or MUTYH gene mutations.
|
19279422 |
2009 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To further characterize 215 APC mutation-negative patients with colorectal neoplasias classified in classical, attenuated, or atypical familial adenomatous polyposis (FAP) coli we performed mutation screening in the Mut Y homologue (MUTYH) gene.
|
20618354 |
2010 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
MYH, OGG1 and MTH1 are members of base excision repair (BER) families, and MYH germline mutations were recently identified in patients with multiple adenomas or familial adenomatous polyposis (FAP).
|
15449173 |
2004 |
|
Adenomatous Polyposis Coli
|
0.600 |
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 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, biallelic MUTYH mutations are the underlying genetic basis in a substantial fraction of patients with adenomatous polyposis.
|
16557584 |
2006 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
thirteen unrelated patients from Tunisia with attenuated FAP were screened for MUTYH germline variants.
|
31739127 |
2020 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.
|
30852976 |
2019 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FAP is mainly associated with mutations in APC (autosomal dominant inheritance) or MUTYH (autosomal recessive inheritance) genes.
|
20935450 |
2010 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A set of 15 unrelated adenomatous polyposis coli (APC)-mutation negative patients from the Swedish Polyposis Registry was screened for germline mutations in the MYH gene.
|
16616356 |
2006 |