NEW: Women & Infants Researcher Uncovers New Genetic Links to Ovarian Cancer

NEW: Women & Infants Researcher Uncovers New Genetic Links to Ovarian Cancer

Women & Infants Hospital announced that researcher Paul DiSilvestro, MD, head of research with the Program in Women's Oncology was part of a team affiliated with the Gynecologic Oncology Group that uncovered more inherited genetic mutations linked to ovarian cancer. 

"Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women. A recent publication documents the efforts of a team of researchers affiliated with the Gynecologic Oncology Group (GOG) to determine if inherited genetic mutations other than BRCA1 and BRCA2 can also put a woman at risk of developing these diseases," wrote Women and Infants.  

“Descriptions of the identity of these genes and their frequency was lacking in the medical literature. The goal of this research was to better define these issues," Dr. DiSilvestro said.

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The team published their findings in the article “Inherited Mutations in Women with Ovarian Carcinoma” in the recent issue of the Journal of the American Medical Society.

Genetic Mutations and Ovarian Cancer

Over 1,900 women with ovarian cancer were identified through the University of Washington gynecologic tissue bank and from various GOG clinical trials, and made up the study population. 

Information about mutation frequencies were compared with the National Heart, Lung and Blood Institute GO Exome Sequencing Project and the Exome Aggregation Consortium. 

The evaluations revealed that 18 percent of the women with ovarian cancer carried mutations in genes associated with ovarian cancer risk. 

“The results of this trial expanded our knowledge of the genes that we suspect cause hereditary ovarian cancer, bringing the total to 11. Genetic testing should now begin screening for these nine additional genetic mutations so women carrying the genes can make educated decisions about their health care future," said Dr. DiSilvestro.  

Women interested in genetic testing can see a genetics counselor with the Cancer Genetics and Prevention Program at Women & Infants.

Women & Infants Hospital 

Women & Infants Hospital is a care New England Hospital and is one of the nation's leading specialty hospitals for women and newborns. 

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