Common variants in ovarian tumors

Identifying Genetic Similarities in Tumors May Shed Light on Spread of Ovarian Cancer

Researchers define the genetic characteristics of ovarian tumors-- information that could lead to new opportunities for personalized therapy and may explain why screening programs for the disease haven’t been successful.

BY KATIE KOSKO

Common variants in ovarian tumors

Yale Cancer Center researchers have defined the genetic characteristics of ovarian tumors, information that could lead to new opportunities for personalized therapy, according to study findings published in Proceedings of the National Academy of Science.

The team examined 64 primary, 41 metastatic and 17 recurrent tumors from 77 patients and then matched them with normal DNA by whole-exome sequencing, which is a technique for sequencing all the protein-coding region of genes in a genome.

The researchers identified several genes, including c-MYC and PIK3CA, that are frequently mutated in primary-metastatic and chemotherapy-resistant ovarian tumors.

In addition, about half of the patients harbored a germinal (inherited) or somatic (an alteration in DNA that occurs after conception) damaging mutation in a repair gene involved in predisposition to ovarian cancer.


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