|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Similarly, comparisons to UK10K controls revealed no significant increase in breast cancer risk associated with p.G396D (OR 1.20, p = 0.44) or p.Y179C (OR 1.71, p = 0.24).
|
30582135 |
2019 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.
|
16492921 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
|
24444654 |
2014 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
|
16287072 |
2006 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
CausalMutation
|
CLINVAR |
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
|
24953332 |
2014 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that p.(Gly396Asp) in <i>MUTYH</i>, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the <i>OGG1</i> gene) might be involved in driving the tumorigenesis leading to familial and sporadic SI-NETs.
|
28634180 |
2017 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that p.(Gly396Asp) in <i>MUTYH</i>, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the <i>OGG1</i> gene) might be involved in driving the tumorigenesis leading to familial and sporadic SI-NETs.
|
28634180 |
2017 |
|
polyps
|
|
0.040 |
GeneticVariation
|
BEFREE |
One patient with 25 adenomas without colorectal cancer carried the c.1145G>A mutation at a homozygote state and one patient with 3 polyps was heterozygote for the mutation c.1145G>A.
|
22266422 |
2012 |
|
Adenoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
One patient with 25 adenomas without colorectal cancer carried the c.1145G>A mutation at a homozygote state and one patient with 3 polyps was heterozygote for the mutation c.1145G>A.
|
22266422 |
2012 |
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
No significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness.
|
21279954 |
2011 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
|
16557584 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
|
16557584 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
|
22158503 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
|
22158503 |
2012 |