Table 3.
Summary of participant diagnosis/phenotype and rare cancer types
| Study Characteristic | Number (n = 66) | Percentage |
|---|---|---|
| Rare disease, cancer or phenotype | ||
| Acute myeloid leukaemia | 1 | 1.52% |
| Adrenocortical carcinoma | 5 | 7.58% |
| Autoinflammatory disorder | 1 | 1.52% |
| Brain cancer | 4 | 6.06% |
| Cancer predisposition disorder | 2 | 3.03% |
| Cardiovascular disorder | 1 | 1.52% |
| Cholangiocarcinoma | 1 | 1.52% |
| Chromosomal disorder | 1 | 1.52% |
| Fibrolamellar hepatocellular carcinoma | 1 | 1.52% |
| Gastric cancer | 2 | 3.03% |
| Gynaecological cancer | 4 | 6.06% |
| Immune Disorder | 3 | 4.55% |
| Malignant pleural mesothelioma | 1 | 1.52% |
| Metabolic disorder | 1 | 1.52% |
| Mixed rare cancers (TCGA) | 2 | 3.03% |
| Multi-system developmental disorder | 3 | 4.55% |
| Muscular disorder | 1 | 1.52% |
| Neurological disorder | 7 | 10.61% |
| Neurometabolic disorder | 2 | 3.03% |
| Neuromuscular disorder | 1 | 1.52% |
| Pheochromocytomas and paragangliomas | 1 | 1.52% |
| Phyllodes breast tumours | 1 | 1.52% |
| Primary testicular germ cell tumours | 1 | 1.52% |
| Primary urethral clear-cell adenocarcinoma | 1 | 1.52% |
| Prostate cancer | 2 | 3.03% |
| Pseudomyxoma peritonei | 1 | 1.52% |
| Rare renal cancer | 2 | 3.03% |
| Renal disorder | 1 | 1.52% |
| Salivary duct carcinoma | 1 | 1.52% |
| Sarcoma | 5 | 7.58% |
| Sezary tumour | 1 | 1.52% |
| Thymic epithelial cancer | 2 | 3.03% |
| Thyroid cancer | 2 | 3.03% |
| Uveal Melanoma | 1 | 1.52% |