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Table 3 Summary of participant diagnosis/phenotype and rare cancer types

From: A scoping review and proposed workflow for multi-omic rare disease research

Study CharacteristicNumber (n = 66)Percentage
Rare disease, cancer or phenotype
 Acute myeloid leukaemia11.52%
 Adrenocortical carcinoma57.58%
 Autoinflammatory disorder11.52%
 Brain cancer46.06%
 Cancer predisposition disorder23.03%
 Cardiovascular disorder11.52%
 Cholangiocarcinoma11.52%
 Chromosomal disorder11.52%
 Fibrolamellar hepatocellular carcinoma11.52%
 Gastric cancer23.03%
 Gynaecological cancer46.06%
 Immune Disorder34.55%
 Malignant pleural mesothelioma11.52%
 Metabolic disorder11.52%
 Mixed rare cancers (TCGA)23.03%
 Multi-system developmental disorder34.55%
 Muscular disorder11.52%
 Neurological disorder710.61%
 Neurometabolic disorder23.03%
 Neuromuscular disorder11.52%
 Pheochromocytomas and paragangliomas11.52%
 Phyllodes breast tumours11.52%
 Primary testicular germ cell tumours11.52%
 Primary urethral clear-cell adenocarcinoma11.52%
 Prostate cancer23.03%
 Pseudomyxoma peritonei11.52%
 Rare renal cancer23.03%
 Renal disorder11.52%
 Salivary duct carcinoma11.52%
 Sarcoma57.58%
 Sezary tumour11.52%
 Thymic epithelial cancer23.03%
 Thyroid cancer23.03%
 Uveal Melanoma11.52%