|
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 |
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 |
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 |
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 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
Certainly, it is known that APC and MUTYH are high penetrance predisposition genes for adenomatous polyposis, but they only account for 5-10% of AAP.
|
31285513 |
2019 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study was aimed to determine APC and MUTYH mutational status in a small cohort of FAP probands in China and to characterize the genotype-phenotype correlation in mutated patients.
|
31062380 |
2019 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition to the well-established role of the DNA glycosylase gene MUTYH, biallelic mutations in which predispose to MUTYH-associated polyposis, a second DNA glycosylase gene, NTHL1, has recently been associated with adenomatous polyposis and a high colorectal cancer risk.
|
29105096 |
2018 |
|
Adenomatous Polyposis Coli
|
0.600 |
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 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
The data of the present study suggested that the synonymous polymorphism APC∆486s was a potential pathogenic alteration that predisposed APC/MUTYH mutation‑negative patients to FAP.
|
30272267 |
2018 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene.
|
28533537 |
2017 |
|
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 |
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 |
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 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis.
|
26684191 |
2016 |
|
Adenomatous Polyposis Coli
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Results from qRT-PCR indicated that gene expression of both APC and MUTYH was reduced in patients analyzed.
|
26511139 |
2015 |
|
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 |
This report expands the phenotype known to be related to AXIN2 alterations and raises the question of whether to screen AXIN2 in FAP cases negative for alterations in APC and MUTYH.
|
23838596 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an increased risk of CRC and is responsible for 30-40 % of adenomatous polyposis cases in which an APC mutation cannot be found.
|
24643704 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH.
|
24253443 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
We herein review the literature on MUTYH-associated colorectal cancer and adenomatous polyposis.
|
23605219 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of all 5 subjects did not identify pathogenic germline mutations in APC or MUTYH.
|
24362051 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cumulative epidemiological evidence for a significant association with CRC risk was graded strong for eight variants in five genes (adenomatous polyposis coli (APC), CHEK2, DNMT3B, MLH1 and MUTYH), moderate for two variants in two genes (GSTM1 and TERT), and weak for 52 variants in 45 genes.
|
23946381 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human MYH (hMYH) gene are associated with the colorectal cancer predisposition syndrome MYH-associated polyposis.
|
24315136 |
2014 |
|
Adenomatous Polyposis Coli
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Eighty-two families were screened for constitutional mutations of the APC and MUTYH genes.
|
22976915 |
2013 |
|
Adenomatous Polyposis Coli
|
0.600 |
Biomarker
|
disease |
BEFREE |
To describe the phenotype and genotype of Puerto Rican Hispanic patients with FAP and MUTYH and compare with other ethnic and racial groups.
|
23460355 |
2013 |