A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
about
The current state of eukaryotic DNA base damage and repairOpportunities for immunotherapy in microsatellite instable colorectal cancerThe genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryNTHL1 defines novel cancer syndromePedigree based DNA sequencing pipeline for germline genomes of cancer familiesEndometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Susceptibility to human cancer: From the perspective of a pathologist.Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohortA Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.Exome sequencing in one family with gastric- and rectal cancer.Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityCirculating lncRNAs associated with occurrence of colorectal cancer progression.Pilot Study of a Next-Generation Sequencing-Based Targeted Anticancer Therapy in Refractory Solid Tumors at a Korean InstitutionRare disruptive mutations and their contribution to the heritable risk of colorectal cancer.Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal CancerThe genetic basis of colonic adenomatous polyposis syndromesContribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in HungaryScarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisGREM1 and POLE variants in hereditary colorectal cancer syndromes.A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.Integrative analysis of copy number and transcriptional expression profiles in esophageal cancer to identify a novel driver gene for therapy.Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.The Mendelian colorectal cancer syndromes.Inherited predisposition to colorectal cancer: towards a more complete picture.Translating colorectal cancer genetics into clinically useful biomarkers.The future of clinical cancer genomics.Advances in Hereditary Colorectal and Pancreatic Cancers.Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.Cancer predisposition syndromes: lessons for truly precision medicine.Expression of mitochondrial genes MT-ND1, MT-ND6, MT-CYB, MT-COI, MT-ATP6, and 12S/MT-RNR1 in colorectal adenopolyps.The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.The Rise and Rise of Exome Sequencing.Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.
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P2860
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
A germline homozygous mutation ...... olyposis and colorectal cancer
@ast
A germline homozygous mutation ...... olyposis and colorectal cancer
@en
A germline homozygous mutation ...... olyposis and colorectal cancer
@nl
type
label
A germline homozygous mutation ...... olyposis and colorectal cancer
@ast
A germline homozygous mutation ...... olyposis and colorectal cancer
@en
A germline homozygous mutation ...... olyposis and colorectal cancer
@nl
prefLabel
A germline homozygous mutation ...... olyposis and colorectal cancer
@ast
A germline homozygous mutation ...... olyposis and colorectal cancer
@en
A germline homozygous mutation ...... olyposis and colorectal cancer
@nl
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A germline homozygous mutation ...... olyposis and colorectal cancer
@en
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Ad Geurts van Kessel
Bastiaan B J Tops
C Marleen Kets
Eugène T P Verwiel
Eveline J Kamping
Fokko M Nagengast
Iris D Nagtegaal
J Han J M van Krieken
Jayne Y Hehir-Kwa
Liesbeth Spruijt
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10.1038/NG.3287
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P577
2015-06-01T00:00:00Z
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P6179
1045898356