New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis - Wikidata - thesis-toulmin - TriplyDB

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

http://www.wikidata.org/entity/Q28307340

about

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer FOXM1: an emerging master regulator of DNA damage response and genotoxic agent resistance Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication Hypermutation in human cancer genomes: footprints and mechanisms A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine 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 Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers A panoply of errors: polymerase proofreading domain mutations in cancer How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Gastrointestinal tract cancers: Genetics, heritability and germ line mutations Genetic predisposition to colorectal cancer: where we stand and future perspectives Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival.Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelity Exome sequencing in one family with gastric- and rectal cancer.Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.A case series of intestinal adenomatous polyposis of unidentified etiology; a late effect of irradiation?ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis Important molecular genetic markers of colorectal cancer.Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Insights into a Critical Role of the FOXO3a-FOXM1 Axis in DNA Damage Response and Genotoxic Drug Resistance.Inherited predisposition to colorectal cancer: towards a more complete picture.Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase δ mutation in human cells.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 pathologies Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.Colorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients.Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer.POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA Synthesis.Roles of human POLD1 and POLD3 in genome stability.Current and future biomarkers in colorectal cancer.NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

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P2860

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

http://www.wikidata.org/entity/Q28307340

description

2014 nî lūn-bûn

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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հուլիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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New insights into POLE and POL ...... olorectal cancer and polyposis

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Human Molecular Genetics

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New insights into POLE and POL ...... olorectal cancer and polyposis

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Adela Castillejo

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Carla Guarinos

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Conxi Lázaro

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Cristina Alenda

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Eva Hernández-Illán

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Fernando Bellido

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Gabriel Capellá

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Gemma Aiza

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María Rodriguez-Soler

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María-Isabel Castillejo

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P2860

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

A method and server for predicting damaging missense mutations

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Lynch syndrome and related familial colorectal cancers.

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3506-12

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2646116

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10.1093/HMG/DDU058

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13

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23

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Cecilia Egoavil

José Luis Soto

Gardenia M Vargas-Parra

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2014-07-01T00:00:00Z

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24501277

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colorectal cancer