Classification of
Genetic Predisposition to Disease
Genetics, Medical
Mutation, Missense
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 Oct 2024
02 Oct 2024
Historique:
received:
11
03
2024
accepted:
30
08
2024
medline:
3
10
2024
pubmed:
3
10
2024
entrez:
2
10
2024
Statut:
aheadofprint
Résumé
PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from Between 2010 and 2020, the Bergonie Institute reference laboratory identified 76 different non-truncating This new method of classification is more discriminative and reclassifies 25 variants, including 8 variants of unknown significance. This report proposes a revision of the current
Sections du résumé
BACKGROUND
BACKGROUND
PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from
METHODS
METHODS
Between 2010 and 2020, the Bergonie Institute reference laboratory identified 76 different non-truncating
RESULTS
RESULTS
This new method of classification is more discriminative and reclassifies 25 variants, including 8 variants of unknown significance.
CONCLUSION
CONCLUSIONS
This report proposes a revision of the current
Identifiants
pubmed: 39358013
pii: jmg-2024-109982
doi: 10.1136/jmg-2024-109982
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Investigateurs
Stéphanie Arpin
(S)
Eric Bieth
(E)
Valérie Bonadona
(V)
Simon Boussion
(S)
Bruno Buecher
(B)
Olivier Caron
(O)
Gustave Roussy
(G)
Jean Chiesa
(J)
Carole Corsini
(C)
Rodolphe Dard
(R)
Benjamin Dauriat
(B)
Capucine Delnatte
(C)
Philippe Denizeau
(P)
Florence Demurger
(F)
Vincent des Portes
(VD)
Anne Dieux-Coeslier
(A)
Berenice Doray
(B)
Valérie Drouin Garraud
(VD)
Nelly Durand
(N)
Charles Patrick Edery
(CP)
Laurence Faivre
(L)
Christine Francannet
(C)
Céline Garrec
(C)
Marion Gauthier-Villars
(M)
Marion Gerard
(M)
Brigitte Gilbert-Dussardier
(B)
Irina Giurgea
(I)
Elodie Haser
(E)
Marion Imbert-Bouteille
(M)
Bertrand Isidor
(B)
Valerie Layet
(V)
Sophie Lejeune
(S)
Dominique Leroux
(D)
Lyonnet Stanislas
(L)
Dominique Martin Coignard
(DM)
Tanguy Martin-Denavit
(T)
Christine Maugard
(C)
Nicolas Molko
(N)
Gilles Morin
(G)
Sylviane Olschwang
(S)
Olivier Patat
(O)
Laurine Perrin
(L)
Jean-Philippe Peyrat
(JP)
Anne Philippe
(A)
Lucile Pinson
(L)
Fabienne Prieur
(F)
Massimiliano Rossi
(M)
Jean-Christophe Saurin
(JC)
Hélène Schuster
(H)
Nicolas Taris
(N)
Marianne Till
(M)
Lionel Van Maldergem
(LV)
Dominique Vaur
(D)
Laurence Venat
(L)
Marie Vincent
(M)
Informations de copyright
© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.