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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 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%