Women and the medical community need a simplified tool to screen for ovarian cancer and breast cancer whenever they visit a cancer imaging center. Such a tool should be practical and should be able to identify women who are at a high risk for ovarian and breast cancer and who might otherwise go undiagnosed, revealed a study that was presented at the 2017 American Society of Clinical Oncology (ASCO) Annual Meeting (Charnow, 2017).
A questionnaire was developed by Anne C. Kushwaha, MD, and colleagues at the MD Anderson Cancer Center in Houston and based on the Hereditary Breast and Ovarian Cancer (HBOC) genetic referral guidelines that are published by the National Comprehensive Cancer Network. The questionnaire was added to the intake forms of all of the women seeking breast cancer imaging at the breast cancer imaging center based in the MD Anderson hospital. A team of radiologists reviewed the forms and patient records to flag those patients who met the guidelines required for use of the tool (Charnow, 2017).
The study, which lasted from 2012 to 2015, reviewed approximately 35,000 patients. From this population, 3.5 percent (1,214) patients were flagged as possibly high-risk patients for cancer. Dr. Kushwaha stated that of these 1,214 patients, 189 had been the recipients of prior genetic testing. From the remaining 1,025 patients that were identified as candidates for genetic counseling, 25 percent (258) made an appointment for genetic counseling and 16 percent (163) received genetic counseling. Of these qualifying patients, 57 patients qualified for chemoprevention, while 41 of the patients qualified for magnetic resonance imaging screening.
A total of 65 percent (106) patients were tested for BRCA1 and BRCA2. Approximately 8.5 percent (9) of the patients tested positive for either BRCA1 or BRCA2 and 7.5 percent (9) patients had an unknown variant.
Dr. Kushwaha believed that the screening tool was able to identify women with the BRCA mutations that would have otherwise been missed by their primary care providers. The fact that these patient's screening turned up findings for the BRCA1 and the BRCA2 genes suggest that the research provides immediate implications for the patients and their family members concerning future surveillance and the possibility of risk reductive surgery.
Dr. Kushwaha said, “I recommend oncologists and other medical specialties to consider partnering with your local breast imaging centers to screen for these high-risk patients in their community.”
Ovarian Cancer Origin Study
A recent study by Dr. Ernst Lengyel, Professor Dr. Samuel Volchenboum, Dr. S. Diane Yamada, Professor Joseph Bolivar DeLee, and colleagues aimed to determine the origin of ovarian cancer. Ovarian cancer may only account for about 1.3 percent of new cancer cases in the U.S. each year, but less than half of the patients survive for five or more years after their original diagnosis.
The study was published in the journal of Cancer Discovery and the researchers aimed to uncover the eventual trajectory of high-grade serous ovarian cancer (HGSOC), the most deadly and aggressive type of ovarian cancer, and its points of origin.
Serous tubal intraepithelial carcinomas (STIC) are small lesions in the fallopian tubes that researchers believe could be precursors to primary fallopian tube cancers. The research team enlisted the help of eight patents who had each been recently diagnosed with advanced and metastatic HGSOC. The research study used sequencing technologies that examined genetic mutations in STIC, fallopian tube, ovarian, and abdominal tumors in each of the patients. The relationship between STIC and metastatic HGSOC remains unclear, however (Hubbard, 2017).
Lengyel said, “By carefully examining which mutations are found in different sites, we can reconstruct how these tumors are connected to one another and which ones are the ‘parents’ for other sites.”
None of the patients used in Lengyel's study were BRCA1 or BRCA2 carriers, whereas previous studies had only looked at STIC lesions that were in the fallopian tubes of patients who did have BRCA1 or BRCA2 mutations and were at a higher risk for breast and ovarian cancer. Some women with BRCA1 or BRCA2 mutations may choose to have a procedure known as prophylactic bilateral salpingo-oophorectomy, the removal of both the fallopian tubes and the ovaries. In many of these cases, the physicians have been able to detect early staged evidence of the disease in the removed fallopian tubes (Hubbard, 2017).
Lengyel's research team discovered that STIC lesions may not necessarily mean that cancer is isolated to that location. The study did, however, find that STIC were the precursor lesions found in at least half of the patient cohort. In about 25 percent of the patients, the lesions were actually metastasis, which means that the cancer had spread from somewhere other than the abdomen. Using further analysis, the researchers utilized innovative tissue culture models to reveal that HGSOC tumor cells can implant in the fallopian tubes and mimic actual STIC lesions (Hubbard, 2017).
Studies Link New Gene Changes to Greater Risk for Ovarian Cancer
Two new studies have discovered links between genetic changes and variants to the development of ovarian cancer. This new development may offer researchers the opportunity to learn more about how ovarian cancer develops, how it may be treated, and how it might one day be prevented (Senthilingam, 2017).
The studies utilized tens of thousands of participants and scanned their genomes. The participants included both individuals with cancer and without. The studies revealed a total of 12 brand new gene variants (or types) that may increase a woman's risk of developing ovarian cancer.
In one of the studies, a research team at the University of Cambridge scanned the genomes of nearly 100,000 people, which consisted of women both with and without ovarian cancer as well as several women who carried the BRCA1 and BRCA2 gene mutations. Prior to this study which revealed 12 brand new gene variants, there were only 23 gene variants that were already linked to an increase in the risk of ovarian cancer from 6 percent to 19 percent (Senthilingam, 2017).
These new gene mutations will be particularly useful for the calculation of added risk faced by women who already have the BRCA1 and BRCA2 gene mutations. Dr. Justine Alford, Cancer Research UK's senior science information officer said, "If the newly identified changes are confirmed, finding out how these can lead to ovarian cancer could support research into developing new drugs and lead to more personalized treatments for the disease" (Senthilingam, 2017).
As the prognosis for almost all ovarian cancer patients is not good, there is a constant need for innovative ways to diagnose, treat, and even to prevent the disease.
Charnow, J. (2017, June 06). Novel approach increases breast, ovarian cancer genetic screening. [Web]. In Oncology Nurse Advisor. Retrieved from: http://www.oncologynurseadvisor.com/asco-2017/questionnaire-aids-in-identifying-brca-screening-candidates/article/666747/
Hubbard, B. (2017, January 10). A new study aims to determine origin of ovarian cancer. [Web]. In Science Life, University of Chicago. Retrieved from: https://sciencelife.uchospitals.edu/2017/01/10/new-study-aims-to-determine-origin-of-ovarian-cancer/
Senthilingam, M. (2017, March 28). New gene changes linked to greater risk of brain and ovarian cancer. [Web]. In CNN. Retrieved from: http://www.cnn.com/2017/03/27/health/genes-linked-to-brain-ovarian-cancer-study/index.html