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

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Annual review of genomics and human genetics - 31 Aug 2022

Chen Jillian L, Miller David T, Schmidt Laura S, Malkin David, Korf Bruce R, Eng Charis, Kwiatkowski David J, Giannikou Krinio

Abstract excerpt

A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regarding mosaicism for eight common tumor suppressor genes-NF1, NF2, TSC1, TSC2, PTEN, VHL, RB1, and TP53-and their related genetic syndromes/entities. We compare and...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Tumor Suppressor
Share to Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurofibromatosis and Schwannoma Cases

Share to Phenotype

Share to Prevalence

Share to Tuberous Sclerosis Complex Research

Share to Tumors and Oncological Cases

Source

Identifiers

PMID: 36044908
DOI: 10.1146/annurev-genom-120121-105450

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.PMID 36044908Read ↗

Somatic mosaics in hereditary tumor predisposition syndromes.Semantic proximity Read ↗

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicismSemantic proximity Read ↗

Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Semantic proximity Read ↗

A genomic view of mosaicism and human disease.Semantic proximity Read ↗

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Semantic proximity Read ↗

Detecting somatic mosaicism: considerations and clinical implications.Semantic proximity Read ↗

Disorders Caused by Genetic MosaicismSemantic proximity Read ↗

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Semantic proximity Read ↗

A genotype-first approach identifies high incidence of<i>NF1</i>pathogenic variants with distinct disease associationsSemantic proximity Read ↗

Somatic mosaicism: implications for disease and transmission genetics.Semantic proximity Read ↗

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencingSemantic proximity Read ↗

Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working GroupSemantic proximity Read ↗

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