|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
17489848 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
|
17674103 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
|
25151137 |
2015 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
|
22158503 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
|
12606733 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
|
28533537 |
2017 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.
|
16890597 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair.
|
11092888 |
2001 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.
|
17219385 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
|
19279422 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.
|
17874208 |
2008 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.
|
20628285 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
|
22865608 |
2013 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MutYH mutation carriers have increased breast cancer risk.
|
21952991 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
|
17031395 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
|
12707038 |
2003 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
|
19953527 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |