Biallelic MUTYH mutations can mimic Lynch syndrome - Wikidata - wikimedia - TriplyDB

Biallelic MUTYH mutations can mimic Lynch syndrome

Biallelic MUTYH mutations can mimic Lynch syndrome

http://www.wikidata.org/entity/Q34356713

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NTHL1 defines novel cancer syndrome Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.The molecular basis of rectal cancer.Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.The genetic basis of colonic adenomatous polyposis syndromes Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma.Molecular genetics of microsatellite-unstable colorectal cancer for pathologists.Characterization of a novel POLD1 missense founder mutation in a Spanish population.Evaluation of laboratory perspectives on hereditary cancer panels.Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population.Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer.Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.

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Biallelic MUTYH mutations can mimic Lynch syndrome

http://www.wikidata.org/entity/Q34356713

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2014 nî lūn-bûn

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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2014 թվականի փետրվարին 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

Biallelic MUTYH mutations can mimic Lynch syndrome

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Biallelic MUTYH mutations can mimic Lynch syndrome

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Biallelic MUTYH mutations can mimic Lynch syndrome

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type

label

Biallelic MUTYH mutations can mimic Lynch syndrome

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Biallelic MUTYH mutations can mimic Lynch syndrome

@en

Biallelic MUTYH mutations can mimic Lynch syndrome

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prefLabel

Biallelic MUTYH mutations can mimic Lynch syndrome

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Biallelic MUTYH mutations can mimic Lynch syndrome

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Biallelic MUTYH mutations can mimic Lynch syndrome

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European Journal of Human Genetics

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Biallelic MUTYH mutations can mimic Lynch syndrome

@en

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Andreas Laner

http://www.w3.org/2001/XMLSchema#string

Barbara Heidenreich

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Elke Holinski-Feder

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Gisela Keller

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Heather Hampel

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Monika Morak

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P2860

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

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

Role of inherited defects of MYH in the development of sporadic colorectal cancer

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

Genetic susceptibility to non-polyposis colorectal cancer.

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer

Hereditary colorectal cancer syndromes.

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1334-1337

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10.1038/EJHG.2014.15

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11

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22

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Elke Holinski-Feder

Albert de la Chapelle

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2014-02-12T00:00:00Z

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1005258438

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24518836

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4200426

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