Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
27
09
2021
accepted:
01
02
2022
revised:
11
01
2022
pubmed:
13
3
2022
medline:
14
10
2022
entrez:
12
3
2022
Statut:
ppublish
Résumé
Despite routine analysis of a large panel of genes, pathogenic variants are only detected in approximately 20% of families with hereditary breast and/or ovarian cancer. Mobile element insertions (MEI) are known to cause genetic diseases in humans, but remain challenging to detect. Retrospective analysis of targeted next-generation sequencing (NGS) data from 359 patients was performed using a dedicated MEI detection pipeline. We detected one MEI in exon 9 of the PALB2 gene in a woman with a family history of breast cancer. The pathogenic variant, c.2872_2888delins114AluL2, disrupts the PALB2 coding sequence and leads to the production of a truncated protein, p.(Gln958Valfs*38). This is the first report of a pathogenic MEI in PALB2. This study illustrates that MEI analysis may help to improve molecular diagnostic yield and can be performed from targeted NGS data used for routine diagnosis.
Identifiants
pubmed: 35277653
doi: 10.1038/s41431-022-01064-3
pii: 10.1038/s41431-022-01064-3
pmc: PMC9553905
doi:
Substances chimiques
Fanconi Anemia Complementation Group N Protein
0
PALB2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1187-1190Informations de copyright
© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.
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