Whole Exome Sequencing Identifies
5´UTR
APCDD1
HDAC5
familial colorectal cancer
germline variant
promoter activity
whole exome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
12 Feb 2021
12 Feb 2021
Historique:
received:
22
01
2021
revised:
06
02
2021
accepted:
07
02
2021
entrez:
6
3
2021
pubmed:
7
3
2021
medline:
16
4
2021
Statut:
epublish
Résumé
Germline mutations in predisposition genes account for only 20% of all familial colorectal cancers (CRC) and the remaining genetic burden may be due to rare high- to moderate-penetrance germline variants that are not explored. With the aim of identifying such potential cancer-predisposing variants, we performed whole exome sequencing on three CRC cases and three unaffected members of a Polish family and identified two novel heterozygous variants: a coding variant in APC downregulated 1 gene (
Identifiants
pubmed: 33673279
pii: ijms22041837
doi: 10.3390/ijms22041837
pmc: PMC7917948
pii:
doi:
Substances chimiques
APCDD1 protein, human
0
Intracellular Signaling Peptides and Proteins
0
Membrane Proteins
0
HDAC5 protein, human
EC 3.5.1.98
Histone Deacetylases
EC 3.5.1.98
Types de publication
Clinical Trial
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Cooperation in Science and Technology
ID : COST Action CA17118
Organisme : Bundesministerium für Bildung und Forschung
ID : Transcan ERA-NET funding
Organisme : Horizon 2020
ID : grant No. 856620
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