British Columbian Researchers uncover new ovarian cancer gene: a connection between cancer and endometriosis
The research paper, ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas, published today in the New England Journal of Medicine. Researchers looked at over 600 samples of ovarian cancer, leading to the conclusion that the ARID1A mutation and loss of function is believed to be an early event in the transformation of endometriosis into clear-cell and endometrioid cancer.
The ARID1A mutations were found in 46 per cent of ovarian clear-cell carcinomas and in 30 per cent of endometrioid carcinomas. After making the initial discovery the OvCaRe team engaged national and international collaborators to determine the frequency and relevance of these mutations. Clear-cell carcinoma and endometrioid carcinoma are the second and third most common forms of ovarian cancer; together they account for one quarter of all cases in
“Our discovery of the dominant mutation in clear-cell ovarian cancer raises hope for much needed treatments for this little understood cancer type. Connecting ARID1A gene mutations to endometriotic lesions accelerates us toward the development of tools to determine which women with endometriosis are at increased risk for ovarian cancer,” says Dr.
The discovery was made through collaboration with Dr.
“The finding that ARID1A is the most frequently mutated gene described thus far in endometrioid and clear cell ovarian cancers represents a major scientific breakthrough,” says Dr.
Huntsman explains, “ten years ago, ovarian cancer appeared to be an unsolvable problem-the liberating moment came when we established that ovarian cancer is actually a number of distinct diseases,” published in the journal PLoS (Public Library of Science Medicine in 2008. “We tailor our research approach to each subtype with the hope of developing effective treatments specific to each disease.”
OvCaRe takes a collaborative and multidisciplinary approach, which has translated into major discoveries and leaps forward in ovarian cancer knowledge- made possible due to the strong support from the BC Cancer Foundation and VGH & UBC Hospital Foundation.
Historically, ovarian cancer has been a difficult disease to diagnose and treat. The symptoms in early stages are often vague, leading to late stage diagnosis and poor outcomes. In B.C., 310 women will be diagnosed with ovarian cancer in one year and approximately 220 will die from the disease.
The research initiative was generously supported by the BC Cancer Foundation (http://www.bccancerfoundation.com/cms/index.cfm), VGH & UBC Hospital Foundation https://www.worldclasshealthcare.ca/), the Canadian Institute of Health Research and the Michael Smith Foundation for Health Research.
Ovarian Cancer Research Program (OvCaRe) is a multidisciplinary research program involving clinicians and research scientists in gynaecology, pathology, and medical oncology at VGH and BC Cancer Agency. OvCaRe is a unique collaboration between the BC Cancer Agency, Vancouver Coastal Health Research Institute, and the
International Ovarian Cancer Experts Available for Comment:
Dr. Andrew Berchuck, director, Division of Gynecologic Oncology, Duke University Medical Center; co-director, breast and ovarian cancer program, Duke Comprehensive Cancer Center t. (919) 684-4943 Dr. Michael Birrer, professor, Department of Medicine, Harvard Medical School; director GYN/Medical Oncology, Medicine, Massachusetts General Hospital t. (617) 724-4800 Dr. James D. Brenton, Cancer Research UK Cambridge Research Institute t. +44 (0)1223 404430 Dr. Barry Rosen, head Gynecologic Oncology, The University of Toronto, University Health Network; professor, Department of Obstetrics and Gynecology, University of Toronto; head Familial Ovarian Cancer Clinic, Princess Margaret Hospital t. (416) 946 4043
SOURCE BC Cancer Foundation