POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
about
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancersEndometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohortIdentification, genetic testing, and management of hereditary melanoma.GeMSTONE: orchestrated prioritization of human germline mutations in the cloudClinical guideline seom: hereditary colorectal cancer.Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor HeterogeneityDevelopment and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.Inherited predisposition to colorectal cancer: towards a more complete picture.How and when adjuvant treatment should be intensified in stage III colorectal cancers?Characterization of a novel POLD1 missense founder mutation in a Spanish population.Advances in Hereditary Colorectal and Pancreatic Cancers.POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologiesReplicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancerPseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Attenuated adenomatous polyposis of the large bowel: Present and future.Current and future biomarkers in colorectal cancer.DNA Polymerase ɛ Deficiency Leading to an Ultramutator Phenotype: A Novel Clinically Relevant Entity.Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.Inherited Cancer in the Age of Next-Generation Sequencing.NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.Approaches for Identifying Novel Targets in Precision Medicine: Lessons from DNA Repair.Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.[Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis].Immunotherapy for Colorectal Cancer.The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes.Abnormally high expression of POLD1, MCM2, and PLK4 promotes relapse of acute lymphoblastic leukemia.Update on Sporadic Colorectal Cancer Genetics.Fidelity of DNA replication—a matter of proofreadingMolecular Diagnostics in Clinical OncologyInactivation of PRIM1 Function Sensitizes Cancer Cells to ATR and CHK1 InhibitorsCurrent Approaches to Pediatric Polyposis Syndromes
P2860
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P2860
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
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2016 nî lūn-bûn
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2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2016年の論文
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2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@ast
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@en
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@nl
type
label
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@ast
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@en
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@nl
prefLabel
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@ast
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@en
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@nl
P2093
P2860
P31
P50
P921
P356
P1433
P1476
POLE and POLD1 mutations in 52 ...... netic testing and surveillance
@en
P2093
Conxi Lázaro
Diana A Puente
Esther Darder
Fernando Bellido
Gabriel Capellá
Gemma Aiza
Matilde Navarro
Miguel Urioste
Rafael Valdés-Mas
Silvia Iglesias
P2860
P2888
P304
P356
10.1038/GIM.2015.75
P407
P50
P5008
P577
2016-04-01T00:00:00Z