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Coffin-Siris syndrome and cancer susceptibility
- Source :
- Genetics in Medicine Open, Vol 1, Iss 1, Pp 100818- (2023)
- Publication Year :
- 2023
- Publisher :
- Elsevier, 2023.
-
Abstract
- Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains unclear. We analyzed cancer sequencing data sets, conducted a comprehensive literature review of patients with CSS diagnosed with malignancies, and examined a cohort of 376 CSS registry patients to estimate cancer frequency. A review of the literature identified several reports of patients with CSS diagnosed with a malignancy, with ARID1A being the most frequent causative gene and associated with hepatoblastoma in 3 cases. Although no cases of malignancy were reported among the patients in the CSS registry, only 26 patients with ARID1A-CSS were available for analysis. Combining these patients with all cases reported in the literature led to the estimate of hepatoblastoma prevalence in ARID1A-CSS of 3.6% (95% CI 0.79%-10.4%). Our findings suggest the hepatoblastoma risk among patients with ARID1A-CSS may exceed the established 1% risk threshold and therefore warrant surveillance. There remains insufficient evidence to support any other CSS gene-cancer association, emphasizing the need for further systematic study.
Details
- Language :
- English
- ISSN :
- 29497744
- Volume :
- 1
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Genetics in Medicine Open
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.048a68bd935d4330a67afe2770d99224
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.gimo.2023.100818