Clear Cell Endometrial Cancer Genomics Reveal Mutations, Molecular Similarities to Other Subtypes

NEW YORK (GenomeWeb) – A new genomic study is highlighting the somatic mutation similarities — and differences — between clear cell endometrial cancer (CCEC) and other histological subtypes of endometrial carcinoma.

“Because the cancer is often diagnosed after it has spread beyond the uterus, the mortality rate is unacceptably high,” senior author Daphne Bell, a cancer genetics and comparative genomics researcher at the National Human Genome Research Institute, said in a statement. “We’re trying to build a knowledge base to decipher the fundamental genomic changes that drive these cancers.”

Researchers from the US, Spain, and Norway used exome sequencing to profile somatic mutations in 16 CCEC tumors. As they reported today in the journal Cancer, the sequence data led to nearly two-dozen candidate genes that were subsequently profiled by targeted sequencing in 47 more CCEC cases. Across the complete tumor set, they identified frequently mutated genes and got a look at new genes with potential roles in CCEC, particularly the transcription factor complex subunit gene TAF1.

By profiling microsatellite stability and just a handful of genes, the group reported, it could detect CCEC subtypes resembling other forms of endometrial carcinoma: serous endometrial cancer or endometrioid endometrial cancer.

“Our findings implicate

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