Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Journal of medical genetics - 1 Oct 2022

Scharf Florentine, Leal Silva Rafaela Magalhaes, Morak Monika, Hastie Alex, Pickl Julia M A, Sendelbach Kai, Gebhard Christian, Locher Melanie, Laner Andreas, Steinke-Lange Verena, Koehler Udo, Holinski-Feder Elke, Wolf Dieter A

Abstract excerpt

PURPOSE: Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the APC and other polyposis genes, suggesting additional pathomechanisms. METHODS: We applied multidimensional genomic analysis employing chromosomal microarray profiling, optical mapping, long-read genome and RNA sequencing combined with FISH and standard PCR of genomic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenomatous Polyposis Coli
Share to Adenomatous Polyposis Coli Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Axin Protein

Share to beta Catenin

Share to Colonic Neoplasms

Share to DNA, Complementary

Share to Genes, APC

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 34911816
DOI: 10.1136/jmedgenet-2021-108147
PMCID: PMC9554066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.PMID 34911816Read ↗

Genetics, genomics and clinical features of adenomatous polyposis.Semantic proximity Read ↗

Expanding the Genetic Spectrum of Hereditary Polyposis Syndromes: A Multicenter Study from ArgentinaSemantic proximity Read ↗

Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.Semantic proximity Read ↗

Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes.Semantic proximity Read ↗

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.Semantic proximity Read ↗

Adenoma development in familial adenomatous polyposis and MUTYH ‐associated polyposis: somatic landscape and driver genesSemantic proximity Read ↗

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.Semantic proximity Read ↗

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSemantic proximity Read ↗

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patientsSemantic proximity Read ↗

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.Semantic proximity Read ↗

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.Semantic proximity Read ↗

An enhanced genetic model of colorectal cancer progression historySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.