Breast cancer gene expression datasets do not reflect the disease at the population level.
Yanping XieBrittny C Davis LynnNicholas MoirDavid A CameronJonine D FigueroaAndrew H SimsPublished in: NPJ breast cancer (2020)
Publicly available tumor gene expression datasets are widely reanalyzed, but it is unclear how representative they are of clinical populations. Estimations of molecular subtype classification and prognostic gene signatures were calculated for 16,130 patients from 70 breast cancer datasets. Collated patient demographics and clinical characteristics were sparse for many studies. Considerable variations were observed in dataset size, patient/tumor characteristics, and molecular composition. Results were compared with Surveillance, Epidemiology, and End Results Program (SEER) figures. The proportion of basal subtype tumors ranged from 4 to 59%. Date of diagnosis ranged from 1977 to 2013, originating from 20 countries across five continents although European ancestry dominated. Publicly available breast cancer gene expression datasets are a great resource, but caution is required as they tend to be enriched for high grade, ER-negative tumors from European-ancestry patients. These results emphasize the need to derive more representative and annotated molecular datasets from diverse populations.
Keyphrases
- gene expression
- end stage renal disease
- ejection fraction
- dna methylation
- newly diagnosed
- high grade
- rna seq
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- machine learning
- public health
- single molecule
- risk factors
- deep learning
- young adults
- copy number
- transcription factor
- low grade
- endoplasmic reticulum
- case control