Inherited non-medullary thyroid cancer
Gene: SEC23BComment on list classification: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). The other variant identified in 2 unrelated women discussed in previous reviews, has since been reclassified as a VUS.
This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is).
On this basis, downgrading the rating of this gene from Green to Red.Created: 7 Nov 2023, 12:37 p.m. | Last Modified: 7 Nov 2023, 12:37 p.m.
Panel Version: 1.7
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. PMID 26522472 reports 2 variants: p.V594G in 5 members of a large family and functional analysis in transfected HEK293T cells showed aberrant aggregation of SEC23B and significantly increased cell migration and upregulation of epithelial-to-mesenchymal transition genes with the V594G mutant compared to wildtype, suggesting a cancer-relevant effect. And p.V164L in two unrelated women.Created: 7 Aug 2017, 1:20 p.m.
clinical utility not yet clear. one publication demonstrating germline involvement in apparently sporadic NMTC.Created: 13 Jun 2017, 3:02 p.m.
Gene: sec23b has been classified as Red List (Low Evidence).
Phenotypes for gene: SEC23B were changed from Cowden syndrome 7 616858 to Cowden syndrome 7, OMIM:616858
All genes have been reviewed and the reviews evaluated. 07.08.2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SEC23B was created by sleigh
SEC23B was added to Inherited non-medullary thyroid cancerpanel. Sources: Radboud University Medical Center, Nijmegen