Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic
CRISPR-Cas Systems
Chromosome Breakage
DNA
DNA Repair
Esophageal Neoplasms
/ diagnosis
Esophageal Squamous Cell Carcinoma
/ diagnosis
Fanconi Anemia
/ diagnosis
Fanconi Anemia Complementation Group A Protein
/ genetics
Fibroblasts
/ metabolism
Gene Editing
Gene Expression Regulation, Neoplastic
Humans
Male
Middle Aged
Mutation
esophageal carcinoma
oropharyngeal squamous cell carcinoma
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
20
05
2020
accepted:
26
10
2020
pubmed:
12
11
2020
medline:
15
9
2021
entrez:
11
11
2020
Statut:
epublish
Résumé
Fanconi anemia (FA) is a clinically heterogenous and genetically diverse disease with 22 known complementation groups (FA-A to FA-W), resulting from the inability to repair DNA interstrand cross-links. This rare disorder is characterized by congenital defects, bone marrow failure, and cancer predisposition.
Identifiants
pubmed: 33172906
pii: mcs.a005595
doi: 10.1101/mcs.a005595
pmc: PMC7784490
pii:
doi:
Substances chimiques
FANCA protein, human
0
Fanconi Anemia Complementation Group A Protein
0
DNA
9007-49-2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR000043
Pays : United States
Organisme : NCATS NIH HHS
ID : TL1 TR002386
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA204127
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL120922
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007739
Pays : United States
Informations de copyright
© 2020 Lach et al.; Published by Cold Spring Harbor Laboratory Press.
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