|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Malignant tumor of colon
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pilomatrixoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of prostate
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Skin Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Endometrial Carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of ovary
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote.
|
12393807 |
2002 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
GeneticVariation
|
BEFREE |
Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote.
|
12393807 |
2002 |
|
Adenoma of large intestine
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote.
|
12393807 |
2002 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
|
12606733 |
2003 |
|
Adenomatous Polyposis Coli
|
|
0.020 |
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 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 |
|
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 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
|
|
0.050 |
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 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.050 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
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 |
|
MUTYH-Associate Polyposis
|
|
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 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |