KNOW MORE is a campaign designed by FORCE to help women diagnosed with ovarian, fallopian tube, or primary peritoneal cancers make informed decisions about genetic counseling and testing for inherited gene mutations.
We kicked off the effort by launching a brief survey to better understand how women with ovarian and related cancers make decisions about genetic testing. Characterizing the women who responded helps us to understand the population we reached with the survey and where we may need to focus additional outreach efforts.
Who responded to our survey?
We are incredibly grateful to the more than 1,600 women with ovarian cancer, fallopian tube, and primary peritoneal cancers who completed our survey. This blog continues our report on what we learned from you.
Genetic counseling and testing uptake
Most of our respondents had genetic counseling and genetic testing for mutations related to ovarian cancer. Of all the women who responded:
- 71% had genetic testing
- 16% had genetic testing without genetic counseling.
- 55% had both genetic counseling and genetic testing.
- 29% did not have genetic testing
- 3% had genetic counseling and decided not to undergo genetic testing.
- 26% had neither genetic counseling nor genetic testing.
Genetic test results
Of the 945 women who indicated they had genetic testing, the majority tested negative for any mutation. A previous blog post addressed the importance of reaching this group of women with information about additional genetic counseling and testing.
- 340 women (38%) tested positive for a BRCA 1 or BRCA 2 mutation.
- Twice as many women tested positive for BRCA1 (230) than BRCA2 (110).
- 6% reported a Variant of Uncertain Significance (VUS) result.
- Almost 5% of respondents reported a mutation in a different gene than BRCA.
- Most reported were the genes associated with Lynch Syndrome (17).
- Other reported mutations included:
- CHEK2 (6)
- BRIP1 (5)
- ATM (4)
- RAD51D (2)
- APC (2)
Ovarian cancer subtypes
Ovarian, fallopian tube, and primary peritoneal cancers are categorized as types of ovarian cancer. Overall, the majority of respondents indicated that their cancers were categorized as ovarian.
- ovarian – 89%
- fallopian tube – 6%
- primary peritoneal – 5%
Ovarian cancer are categorized into different subtypes based on the cell type that comprises the cancer. Identifying the specific subtype affects treatment options and provides information on prognosis. About 29% of respondents did not know which ovarian cancer subtype they had. The majority of respondents had serous type of cancer, which is the most common type of ovarian cancer.
- serous (33%)
- borderline epithelial (6%)
- endometrioid (9%)
- clear cell (6%)
- stromal (4%)
- mucinous (3%)
- germ cell (2%)
Women with BRCA1 and BRCA2 mutations were more likely to have serous ovarian cancer, and less likely to have endometrioid and clear cell cancers than women who tested positive for another mutation and women who tested negative for a mutation. This makes sense because women with BRCA mutations typically develop serous ovarian cancer, while women with Lynch syndrome develop a variety of different types of ovarian cancer.
Other findings based on tumor type
Women with serous cancers were more likely to be diagnosed at a later stage than women with other types of cancer.
Women with borderline tumors were less likely to receive a recommendation for genetic testing at the time of diagnosis than women with other tumor types. They were also less likely to have genetic testing. This makes sense, because these types of cancers are not usually associated with an inherited mutation.
Nevertheless, it’s important to note that 9 of the 35 women who indicated they had borderline tumors and who had genetic testing reported testing positive for a BRCA1 or BRC2 mutation. Additionally, one woman with borderline ovarian cancer tested positive for a gene associated with Lynch Syndrome. Additional information would be needed to determine if these borderline tumors were caused by inherited mutations.
Why are these findings important?
All women diagnosed with ovarian, fallopian tube, or primary peritoneal cancer meet national guidelines for genetic counseling. Although much of the genetic testing to-date has focused on BRCA1 and BRCA2, it’s important that ovarian cancer survivors and health care providers recognize other gene mutations that can be associated with these cancers.
A large percentage of women reported not recalling what type of ovarian cancer they had. For some, this may be a function of having completed treatment. But even after treatment has ended, there may be benefit to survivors knowing more about their ovarian cancer diagnosis. For example, certain subtypes are more likely to be hereditary, and might provide clues that can help women with ovarian cancer and their relatives avoid a new cancer diagnosis. Patients who want to know more about their diagnosis have a right to request a copy of their medical records, laboratory, and pathology reports.
Our survey was promoted through the FORCE community and beyond, with the assistance of several partner organizations. We reached a large number of women with BRCA1 and BRCA2 mutations. The number of respondents who tested positive for Lynch Syndrome, or one of the newly-identified gene mutations associated with ovarian cancer was smaller than expected in the wider population.
The survey was open to women who were diagnosed with ovarian cancer at any time in their life. As previously reported, many participants had testing prior to 2014. So the results reflect a snapshot of current and past testing patterns. As genetic testing technology has improved, more research has been done on hereditary cancer, and more genes associated with ovarian cancer are have been identified, national guidelines on genetic counseling and testing have changed. This survey highlights the ongoing need to raise awareness about updates in the guidelines and the importance of genetic evaluation for all ovarian cancer patients.
You can read our other KNOW MORE blog posts here.Tags: ATM, brca, BRCA 1, BRCA 2, brca research, BRCA2, breast cancer prevention, BRIP1, CHEK2, gene testing, Genetic counseling, HBOC, ovarian cancer, PALB2, previvor;pre-vivor;high-risk;breast cancer risk;ovarian, RAD50, RAD51C, RAD51D