Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.
Journal
Endocrine pathology
ISSN: 1559-0097
Titre abrégé: Endocr Pathol
Pays: United States
ID NLM: 9009288
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
pubmed:
18
2
2019
medline:
22
1
2020
entrez:
18
2
2019
Statut:
ppublish
Résumé
Neuroendocrine neoplasms (NENs) have been primarily associated with germline pathogenic variants in genes involved in chromatin remodeling (MEN1), cell cycle control (CDKN1B), PI3K/mTOR signaling (TSC1/2, PTEN) as well as pseudohypoxia (VHL, SDHx). Recent work has implicated various genes involved in DNA repair pathways in the pathophysiology of a subset of pancreatic neuroendocrine neoplasms, including BRCA2, via the homologous recombination pathway (HRD). To date, germline variants in other HRD pathway genes have not been described to contribute to NEN. PALB2, RAD51C, and BARD1 are additional tumor suppressor genes which also mediate repair of double stranded DNA breaks through the HRD pathway and are implicated in hereditary breast (PALB2; BARD1) and ovarian (RAD51C) cancer. Here we report three cases of NEN associated with germline pathogenic variants in PALB2 (pancreatic NEN), RAD51C (thymic NEN), and BARD1 (pancreaticoduodenal NEN) respectively, further linking the DNA repair pathway to NENs.
Identifiants
pubmed: 30772928
doi: 10.1007/s12022-019-9569-4
pii: 10.1007/s12022-019-9569-4
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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