Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
MUTYH-Associate Polyposis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
|
25452455 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
MUTYH-Associate Polyposis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
|
25645574 |
2015 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
|
24310308 |
2014 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
MUTYH-Associate Polyposis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
MUTYH-Associate Polyposis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Base-excision repair of oxidative DNA damage.
|
17581577 |
2007 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Colorectal cancer and inherited mutations in base-excision repair.
|
15465463 |
2004 |
MUTYH-Associate Polyposis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
|
12853198 |
2003 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
|
12853198 |
2003 |