Monogenic and polygenic determinants of sarcoma risk: an international genetic study

Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas (Review)

“…The greater the accumulated burden of multiple pathogenic variants, the earlier the age at which the cancer was diagnosed. To a certain degree, these data demonstrated that sarcoma has a genetic etiology (23). The musculoskeletal sarcoma National Comprehensive Cancer Network guidelines (www.nccn.…”

GermlineCDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

“…The outcome of our filtering strategy was the selection of 82 variants spanning 76 genes. Among previously published sarcoma susceptibility genes, we found no mutations in TP53 , ATR , BRCA2 and ERCC2 6. We found a c.8584+1G>A putative splice site mutation in ATM gene in patient 7389-I.2, but this variant was absent in the sarcoma-affected relative, II.1.…”

“…Unfortunately, PDGFRA was not included in the 72 genes panel studied in the recent study of 1162 patients with sarcoma 6. PDGFRα belongs to the large family of membrane RTKs and plays primary roles in mesenchymal tissue development.…”

Second Primary Malignancies in Patients with Well-differentiated/Dedifferentiated Liposarcoma

“…There are no other defined genetic cancer syndromes associated with a higher risk of liposarcoma to our knowledge. Interestingly, a recent study by Ballinger et al found that in a large combined cohort of 1,162 patients with sarcoma, using targeted exon sequencing, more than half were actually found to have an excess of pathogenic germline monogenic and polygenic variants (24). These variants were associated with earlier age of onset, and suggested that a large percentage of sarcomas may in fact have some underlying hereditary and genetic component.…”