A new and low-cost method for genomic screening has identified mutations in 12 genes that predispose women to cancers of the ovary, fallopian tubes, and peritoneum. Seattle researchers who developed the test say that more patients with ovarian carcinoma carry cancer-predisposing mutations, and in more genes, than previously thought.
“More than one-fifth of ovarian cancers arise in women with a familial predisposition, but relying on family history alone for screening would have missed one-third of the cases,” says Elizabeth M. Swisher, MD, senior author of a paper on these findings published in the Proceedings of the National Academy of Sciences last year.
A professor of obstetrics and gynecology at the University of Washington, Swisher directs the Breast and Ovarian Cancer Prevention program at Seattle Cancer Care Alliance and the UW School of Medicine. She is also an affiliate researcher at Fred Hutchinson Cancer Research Center. The results of her most recent study have implications far beyond those related to ovarian cancer.
The BROCA sequencing method, a relatively low-cost method developed by Tom Walsh, PhD and Mary-Claire King, PhD at the University of Washington, is highly sensitive and can find all classes of genetic mutations. Under the direction of Dr. Colin Pritchard, BROCA has just become available as a clinical test to identify a broad range of breast, colon, pancreatic, ovarian, and melanoma gene mutations. Identifying who is at risk for certain cancers will allow clinicians to target prevention efforts more effectively. The BROCA test is not patented and designs for its use in genetic studies are freely available.
“Most women are not diagnosed until the cancer has advanced to the point where the chances of a cure are small,” Swisher says. “Women with early stage ovarian cancer have a better survival rate than those diagnosed with late stages, but current methods of detection are not effective.”
And this is precisely why Swisher and her research team are looking for a more complete genetic picture of ovarian and related cancers. Finding the group of genetic mutations most often associated with these cancers, and developing a simple test to detect these mutations, could lead to earlier identification of the women most prone to malignancies.
Read more about this topic in the Oct. 25, 2011 UW Today article by Leila Gray.