Common variants in ovarian tumors

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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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Improve clinical care for Ovarian cancer using multiple genome sequences

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Simultaneous Sequencing of Paired Germline and Somatic Specimens Enhanced Clinical Care in Ovarian Cancer

Improve clinical care for Ovarian cancer using multiple genome sequences

In a small sample of women with ovarian cancer for whom simultaneous next-generation DNA sequencing was performed on paired germline and tumor specimens, test results influenced clinical decision-making for nearly 25% of patients. This study was presented at the Society of Gynecologic Oncology (SGO)’s 50th Annual Meeting on Women’s Cancer.

Targeted sequencing using the BROCA test, a gene panel designed for patients with a suspected hereditary cancer predisposition, was performed between July 2017 and July 2018 on paired peripheral blood (germline) and ovarian cancer tumor specimens (somatic) for 36 women with newly diagnosed ovarian cancer and 7 women with recurrent disease. Tumor specimens were obtained from surgical specimens, biopsy, or cytology in 72.1%, 25.6%, and 2.3% of cases, respectively.


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