The genetic fingerprints of cancer continue to be elaborated in basic research.
A study published in Nature details genetic profiles that permit endometrial cancers to be re-classed into one of four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high that might prove useful for guiding post-surgical adjuvant therapy for women with aggressive tumors. There were 48 genes with differential mutation frequencies across the four groups.
The researchers also found that uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas.
Photo credit: cancergenome.nih.gov
A second study of acute myeloid leukemia published in the New England Journal of Medicine analyzed the genomes of 200 adults with newly diagnosed acute myeloid leukemia (AML) via whole-genome sequencing (50 cases) or whole-exome sequencing (150 cases), along with RNA and microRNA sequencing and DNA-methylation analysis.
At least one potential driver mutation was detected in nearly all of the AML samples, although a complex interplay of genetic events appears to contribute to AML pathogenesis in individual patients, according to researchers for The Cancer Genome Atlas Research Network, who also conducted the endometrial cancer gene study.
They concluded that the databases from these gene studies will be a foundation for research into pathogenesis, classification, and risk stratification.
The comprehensive data that have been generated by The Cancer Genome Atlas Research Network are freely available through the TCGA Data Portal and the Cancer Genomics Hub (CGHub).