They also found a possible new front in the fight against ovarian cancer. They tallied a group of about 30 gene mutations that plays a role in the disease, but which individually occur in only 1 to 2 percent of patients. A small number of patients had mutations of the BRAF gene. Another small subset had mutations of the Rb2 gene, which is common in breast cancer but not in ovarian cancer. And yet another subset had a mutation in a gene that codes for the production of the PI 3-kinase enzyme.
These mutations are quite rare by themselves, but together they’re found in almost 20 percent of ovarian cancer patients. Therapies already exist for many of these mutations, such as an inhibitor that silences the BRAF mutation, and others are in development.
“These are actionable rare events,” says Spellman. “They are very specific mutations that, if detected, clinicians can possibly go after — which opens up a whole new way to fight the disease.”
They also determined that a network of genes that repairs damaged DNA is defective in about half the tumors. Patients with this defect may benefit from therapies that inhibit this errant function. And they found that the spectrum of mutations in high-grade serous ovarian cancer is distinct from three other ovarian cancer subtypes, which are themselves distinct from each other.
“This represents an opportunity to improve cancer care by approaching the treatment of each subtype differently,” says Spellman.
Other findings include the fact that almost all patients with high-grade serous ovarian cancers have a mutation in the TP53 gene, which codes for a tumor-suppressing protein. This buttresses earlier research that underscored the importance of the TP53 gene mutation in ovarian cancer. In addition, almost a quarter of patients had BRCA1 or BRCA2 gene mutations, which also reaffirms earlier research.
This research was supported by the National Institutes of Health. In addition to the ovarian cancer study, The Cancer Genome Atlas is conducting large-scale genomic analyses of 19 other types of cancer, which are chosen in part because of their public health impact and poor prognosis.
Lawrence Berkeley National Laboratory addresses the world’s most urgent scientific challenges by advancing sustainable energy, protecting human health, creating new materials, and revealing the origin and fate of the universe. Founded in 1931, Berkeley Lab’s scientific expertise has been recognized with 12 Nobel prizes. The University of California manages Berkeley Lab for the U.S. Department of Energy’s Office of Science. For more, visit www.lbl.gov.
Additional information:
- The research is described in a paper entitled “Integrated Genomic Analyses of Ovarian Carcinoma” that is published in the June 30, 2011 issue of Nature. The paper lists the scientists and institutions involved in the research.
- More about The Cancer Genome Atlas
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