Sarcoma susceptibility
Gene: FANCCUpdating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 5:20 p.m. | Last Modified: 5 Oct 2022, 5:20 p.m.
Panel Version: 1.72
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Expert review indicated that there is not sufficient evidence for this gene-disease association at this time.Created: 30 Jan 2023, 11:26 a.m. | Last Modified: 30 Jan 2023, 11:26 a.m.
Panel Version: 1.73
Comment on list classification: Rating Amber but will flag this gene for GMS review to determine whether there is enough evidence supporting contribution of germline variants in FANCC to sarcoma pathogenesis.
Gillani et al., (2022) reported statistically significant enrichment for predicted pathogenic germline variants in the FANCC gene in a cohort of European Ewing sarcoma patients. However, variants have reduced penetrance and the overall frequency of these variants was low (1.5% in discovery cohort, 0.8% in validation cohort).
Chan etl al., (2017) also identified another likely pathogenic frameshift deletion in FANCC in an individual with epitheloid sarcomaCreated: 22 Jun 2022, 11:15 a.m. | Last Modified: 22 Jun 2022, 11:15 a.m.
Panel Version: 1.71
At least 6 individuals in PMID: 35512711 with significant enrichment (OR=12 and 7 in discovery and validation cohorts, respectively)
Sources: LiteratureCreated: 9 May 2022, 7:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ewing Sarcome
Publications
Tag Q3_22_rating was removed from gene: FANCC. Tag Q3_22_expert_review was removed from gene: FANCC.
Tag Q3_22_rating tag was added to gene: FANCC.
Tag Q3_22_expert_review tag was added to gene: FANCC.
Publications for gene: FANCC were set to PMID: 35512711
Gene: fancc has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FANCC were changed from Ewing Sarcome to Ewing sarcoma, MONDO:0012817
gene: FANCC was added gene: FANCC was added to Sarcoma susceptibility. Sources: Literature Mode of inheritance for gene: FANCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FANCC were set to PMID: 35512711 Phenotypes for gene: FANCC were set to Ewing Sarcome Penetrance for gene: FANCC were set to unknown Review for gene: FANCC was set to GREEN