|
Pilomatrixoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Endometrial Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
|
11818965 |
2002 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
|
11818965 |
2002 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
|
11818965 |
2002 |
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
|
11818965 |
2002 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
|
12606733 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
|
12853198 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
|
12606733 |
2003 |
|
Adenomatous Polyposis Coli
|
|
0.030 |
GeneticVariation
|
BEFREE |
The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches.
|
12628248 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
|
15366000 |
2004 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328).
|
15236166 |
2004 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers.
|
15523092 |
2004 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.030 |
GeneticVariation
|
BEFREE |
We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers.
|
15523092 |
2004 |
|
Adenomatous Polyps
|
|
0.020 |
GeneticVariation
|
BEFREE |
Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328).
|
15236166 |
2004 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
|
16134147 |
2005 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC.
|
15987719 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
|
15931596 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.
|
15987719 |
2005 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.
|
15635083 |
2005 |
|
MUTYH-Associate Polyposis
|
|
0.770 |
GeneticVariation
|
BEFREE |
The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC.
|
15987719 |
2005 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.030 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |