gastroenterology
genetic counseling
genetic predisposition to disease
medical oncology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
27 Nov 2023
27 Nov 2023
Historique:
received:
25
04
2023
accepted:
18
06
2023
medline:
29
11
2023
pubmed:
5
7
2023
entrez:
4
7
2023
Statut:
epublish
Résumé
The We report five new unrelated patients with All patients had attenuated colorectal adenomatous polyposis, with duodenal polyposis in two cases. Both women had breast carcinomas. EMAST phenotype was present at various levels in different samples of the five patients, confirming the This report lends further credence to biallelic
Sections du résumé
BACKGROUND
BACKGROUND
The
METHODS
METHODS
We report five new unrelated patients with
RESULTS
RESULTS
All patients had attenuated colorectal adenomatous polyposis, with duodenal polyposis in two cases. Both women had breast carcinomas. EMAST phenotype was present at various levels in different samples of the five patients, confirming the
CONCLUSION
CONCLUSIONS
This report lends further credence to biallelic
Identifiants
pubmed: 37402566
pii: jmg-2023-109341
doi: 10.1136/jmg-2023-109341
doi:
Substances chimiques
MSH3 protein, human
0
MutS Homolog 3 Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1198-1205Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.