Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). - Wikidata - wikimedia - TriplyDB

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

http://www.wikidata.org/entity/Q54441823

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Familial adenomatous polyposis A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Genetic predisposition to colorectal cancer: where we stand and future perspectives Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature Somatic point mutations occurring early in development: a monozygotic twin study.Familial colorectal cancer, beyond Lynch syndrome Genomic era diagnosis and management of hereditary and sporadic colon cancer.High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.We Don't Know What We Don't Know About Adolescent and Young Adult Patients with Familial Adenomatous Polyposis-Related Colorectal Cancer.The genetic basis of colonic adenomatous polyposis syndromes Clinical guideline seom: hereditary colorectal cancer.ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.Small bowel polyposis syndromes.Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?Genetic testing in inherited polyposis syndromes - how and why?Multiple primary cancers as a guide to heritability.Inherited predisposition to colorectal cancer: towards a more complete picture.Recently characterized molecular events in uncommon gynaecological neoplasms and their clinical importance.Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Allele-specific expression of APC in adenomatous polyposis families.From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.Robust identification of mosaic variants in congenital heart disease.Detection of APC mosaicism by next-generation sequencing in an FAP patient.[Gastrointestinal polyposis syndromes].Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

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P2860

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

http://www.wikidata.org/entity/Q54441823

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis

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Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

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Dietlinde Stienen

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Nicolaus Friedrichs

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Nils Rahner

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Siegfried Uhlhaas

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Stefan Aretz

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Susanne Stemmler

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Waltraut Friedl

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P2860

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation

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985-992

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10.1002/HUMU.20549

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