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

Genes, Tumor Suppressor Humans Mosaicism Mutation Phenotype Prevalence
NF1 NF2 PTEN RB1 TP53 TSC1 TSC2 VHL mosaicism tumor suppressor

Journal

Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346

Informations de publication

Date de publication:
31 08 2022
Historique:
entrez: 31 8 2022
pubmed: 1 9 2022
medline: 9 9 2022
Statut: ppublish

Résumé

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-

Identifiants

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

Types de publication

Journal Article Review Research Support, N.I.H., Intramural Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

331-361

Subventions

Organisme : NCI NIH HHS
ID : HHSN261200800001E
Pays : United States

Auteurs

Jillian L Chen (JL)

Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine and Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA; email: kgiannikou@bwh.harvard.edu.
Boston University School of Medicine, Boston, Massachusetts, USA.

David T Miller (DT)

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Laura S Schmidt (LS)

Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.

David Malkin (D)

Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Bruce R Korf (BR)

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Charis Eng (C)

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, USA.

David J Kwiatkowski (DJ)

Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine and Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA; email: kgiannikou@bwh.harvard.edu.

Krinio Giannikou (K)

Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine and Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA; email: kgiannikou@bwh.harvard.edu.
Division of Hematology and Oncology, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Los Angeles, California, USA; email: kgiannikou@chla.usc.edu.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Mosaicism in Tumor Suppressor Gene Syndromes:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mosaicism in Tumor Suppressor Gene Syndromes:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Mosaïcisme › Mosaicism in Tumor Suppressor Gene Syndromes:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mosaicism in Tumor Suppressor Gene Syndromes:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Mosaicism in Tumor Suppressor Gene Syndromes:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Prévalence › Mosaicism in Tumor Suppressor Gene Syndromes:...