The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
ATR
exome sequencing
extreme phenotype
genetic predisposition to cancer
male breast cancer
Journal
Oncotarget
ISSN: 1949-2553
Titre abrégé: Oncotarget
Pays: United States
ID NLM: 101532965
Informations de publication
Date de publication:
07 02 2023
07 02 2023
Historique:
entrez:
7
2
2023
pubmed:
8
2
2023
medline:
10
2
2023
Statut:
epublish
Résumé
In oncogenetics, some patients could be considered as "extreme phenotypes", such as those with very early onset presentation or multiple primary malignancies, unusually high numbers of cancers of the same spectrum or rare cancer types in the same parental branch. For these cases, a genetic predisposition is very likely, but classical candidate gene panel analyses often and frustratingly remains negative. In the framework of the EX
Identifiants
pubmed: 36749285
pii: 28358
doi: 10.18632/oncotarget.28358
pmc: PMC9904323
doi:
Substances chimiques
Ataxia Telangiectasia Mutated Proteins
EC 2.7.11.1
ATR protein, human
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
111-125Subventions
Organisme : Medical Research Council
ID : MR/T012978/1
Pays : United Kingdom
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