Researchers Find Genes Behind Aggressive Ovarian, Endometrial Cancers

October 12, 2016

NEW HAVEN, Conn -- October 12, 2016 -- In a major breakthrough for ovarian and uterine cancers, researchers have defined the genetic landscape of carcinosarcomas (CSs), pointing the way to possible new treatments.

The findings are published early online in the journal Proceedings of the National Academy of Sciences (PNAS).

The collaborative research team -- which included experts in gynaecological cancer, genomics, pathology, and computational biology -- performed a comprehensive genetic analysis of ovarian and endometrial CSs.

The team collected tumours from 68 women affected with ovarian and uterine CSs to try to determine the molecular basis of the tumour’s aggressive behaviour. They sequenced all the genes from the tumours and identified mutations that are crucial for these tumours to grow. The team also studied the copy number variations.

“We identified a number of new genes that are frequently mutated in CS,” said senior author Alessandro Santin, MD, Yale School of Medicine, New Haven, Connecticut. “In addition to mutations in cancer genes previously identified in uterine and ovarian carcinomas, we found an excess of mutations in genes encoding specific groups of proteins, which may potentially explain their mixed tissue characteristics.”

“We’ve established unequivocally the common genetic origin of these tumours as epithelial tumours,” he added. “Importantly, by studying the genetics of both the carcinomatous and sarcomatous elements of these tumours, we demonstrated that the transition from carcinoma to sarcoma, which represents one of the main characteristics of these tumours, may happen at different times during the evolution of these cancers.”

SOURCE: Yale Cancer Center

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