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

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Journal of medical genetics - 1 Feb 2018

Innes Josie, Reali Lisa, Clayton-Smith Jill, Hall Georgina, Lim Derek Hk, Burghel George J, French Kim, Khan Unzela, Walker Daniel, Lalloo Fiona, Evans D Gareth R, McMullan Dominic, Maher Eamonn R, Woodward Emma R

Abstract excerpt

BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Protein Receptors, Type I
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidental Findings

Share to Microarray Analysis

Share to Oncogenes

Share to Pilot Projects

Share to Proto-Oncogene Mas

Share to Tuberous Sclerosis Complex 2 Protein

Source

Identifiers

PMID: 28918392
DOI: 10.1136/jmedgenet-2017-104892

Genes

FLCN
MET
SDHA
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.PMID 28918392Read ↗

Germline copy number variations and cancer predisposition.Semantic proximity Read ↗

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.Semantic proximity Read ↗

Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development.Semantic proximity Read ↗

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Semantic proximity Read ↗

Pathogenic or not? Assessing the clinical relevance of copy number variants.Semantic proximity Read ↗

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.Semantic proximity Read ↗

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.Semantic proximity Read ↗

Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.Semantic proximity Read ↗

Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.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 ↗

Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageSemantic proximity Read ↗

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic ServiceSemantic proximity Read ↗

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