Sarcoma cancer susceptibility
Gene: RECQL4
In the paper author identified Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma patients. Five of 249 (2.0%) osteosarcoma patients carried LoF Heterozygous variant. These RECQL4 variants were significantly overrepresented in children with OS, the cancer most frequently observed in patients with RTS, as compared to 134,187 noncancer controls in the Genome Aggregation Database (gnomAD v2.1; P = 0.00087, odds ratio [OR] = 7.1, 95% CI, 2.9–17).
OR=7 - Sufficient evidence also for monoallelic for osteosarcomasCreated: 24 Mar 2023, 7:24 a.m. | Last Modified: 24 Mar 2023, 7:24 a.m.
Panel Version: 1.21
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Osteosarcoma
Publications
This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.Created: 20 Aug 2018, 1:29 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.Created: 14 May 2018, 3:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma
Publications
Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma
Ellen McDonagh: Gene and evidence provided by
This gene has been classified as Green List (High Evidence).
RECQL4 was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list
RECQL4 was created by Ellen McDonagh