Research highlight

Somatic mutations in endometrial cancer

Nature Genetics

October 29, 2012

Recurrent somatic mutations causing endometrial cancer, affecting the lining of the uterus, are reported in a study published online this week in Nature Genetics.

Endometrial cancer is the sixth most common cancer in women worldwide. Daphne Bell and colleagues report sequencing of the exome, the coding regions of the genome, of 13 primary serous endometrial tumors. They followed with a prevalence screen, sequencing 18 genes showing recurrence in an additional 40 serous endometrial tumors. To compare across the major histological subtypes, Bell and colleagues also sequenced 3 of these genes in 23 clear-cell, 67 endometrioid and 18 mixed-histology endometrial tumors. They identified a high frequency of somatic mutations in genes involved in chromatin remodeling or ubiquitin ligase complex, suggesting the importance of these processes in the pathogenesis of endometrial cancer.

doi: 10.1038/ng.2455

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