Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The human DNA repair gene MUTYH, whose mutational loss causes a colorectal polyposis and cancer predisposition, contains three alternative first exons.
|
30653782 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Matched germline/tumour WGS and somatic mutational signature analysis revealed patients with unreported, dual pathogenic germline variants in cancer risk genes (BRCA1/BRCA2; BRCA1/MUTYH).
|
31090900 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Whole genome and whole exome sequencing studies have found MUTYH deficiencies in an increasing number of cancer types.
|
31203172 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Targeted next-generation sequencing of 7 APC/MUTYH mutation-negative DNA samples identified novel potentially pathogenic POLD1 variant (p.L460R) in 1 patient and known low-penetrant cancer-associated allele CHEK2 p.I157T in 3 patients.
|
29406563 |
2018 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thirteen subjects had mutations in other cancer-associated genes (8 in MUTYH, 2 in SMAD4, 1 in BRCA1, 1 in TP53, and 1 in CHEK2), all identified through multigene panel tests.
|
29146522 |
2018 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
MAP patients were younger than those with negative MUTYH testing at polyps diagnosis (P<0.0001) and at first cancer diagnosis (P=0.007).
|
27829682 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In one sample, the MUTYH mutation was associated with a MSH6 disease-causing mutation, suggesting that this method is helpful to identify additional cancer risk modifiers and provides a useful tool to optimize clinical issues.
|
28502729 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thus, we compared the carrier frequency of MUTYH IVS10-2A>G heterozygote in the APC mutation negative cases with that in 115 controls over 70 years of age who showed no apparent clinical manifestations of cancer and claimed that they had no history of cancer at the time of enrollment.
|
26684191 |
2016 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
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 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It is unclear whether mono-allelic MUTYH gene carriers (heterozygotes) are also at increased risk for even few adenomas or cancer.
|
25822476 |
2015 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
|
24444654 |
2014 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The relevance of these results will be discussed to define the role of specific human mutations in colorectal cancer risk together with the possible role of MUTYH inactivation in sporadic cancer.
|
23507534 |
2013 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MUTYH mutations predispose to recessively inherited colorectal polyposis and cancer.
|
22297469 |
2012 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
The MUTYH gene shows heavy alternative splicing, but the transcripts relevant for biological function and cancer prevention have not been determined.
|
22473953 |
2012 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In vitro analysis of Q324H MUTYH expressed in insect cells showed that it has reduced enzyme activity similar to that of the known cancer variant G382D.
|
22926731 |
2012 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MUTYH mutations in cancer DNA were detected in 3 cases, while mutations were also found in DNA samples from normal tissues, indicating that all were germline mutations.
|
22641385 |
2012 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Human H1299 cancer cell lines inducibly expressing wild-type (WT) MUTYH (type 2) or one of the 4 above-mentioned MUTYH variants were established using the piggyBac transposon vector system, enabling the genomic integration of the transposon sequence for MUTYH expression.
|
23322991 |
2012 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recessively inherited mutations in the base excision repair gene MYH have recently been associated with predisposition to colorectal adenomas and cancer.
|
20939750 |
2011 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity.
|
21279954 |
2011 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Variants OGG1 c.137G>A; MUTYH c.1187G>A were detected in Amsterdam I families and cosegregate with cancer.
|
21355073 |
2011 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
|
21171015 |
2011 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer.
|
20725929 |
2010 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The expression of MUTYH protein in colorectal adenomas or cancer was studied by IHC using three different (1 polyclonal and 2 monoclonal) antibodies in six samples from patients with biallelic MUTYH mutations, in three samples from patients with a single MUTYH mutation, and in 11 samples from patients without MUTYH mutations.
|
19031083 |
2009 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer.
|
19404084 |
2009 |