A family history of some other types of cancer, such as colorectal and breast cancer, is also linked to an increased risk of ovarian cancer. This is because these cancers can be caused by an inherited mutation (change) in certain genes that cause a family cancer syndrome. Having a family cancer syndrome increases your risk of ovarian cancer; up to 25 percent of ovarian cancers are part of family cancer syndromes that result from inherited mutations in certain genes. One such syndrome, hereditary breast and ovarian cancer syndrome (HBOC), is caused most commonly by inherited mutations in the BRCA1 or BRCA2 genes, as well as by rarer mutations in other genes. This syndrome is linked to a high risk of breast cancer as well as ovarian, fallopian tube, and primary peritoneal cancers. Mutations in BRCA1 and BRCA2 are also the cause of most inherited ovarian cancers. Another family syndrome linked to ovarian cancer is hereditary nonpolyposis colon cancer (HNPCC), or Lynch syndrome. The mutations in this syndrome involve many different genes, including MLH1, MSH2, MSH6, PMS2, and EPCAM. People with HNPCC are at extremely high risk of colon cancer, but their ovarian cancer risk is significant too. Women who have HNPCC face a lifetime ovarian cancer risk of anywhere from 1 to 38 percent, according to the American Society of Clinical Oncology, and up to 1 percent of all ovarian epithelial cancers occur in women with this syndrome. Women in the general population have less than a 2 percent chance of developing ovarian cancer at some point in their lives. (1) However, up to 58 percent of women who inherit a BRCA1 mutation and up to 29 percent who inherit a BRCA2 mutation will develop ovarian cancer, according to a 2020 meta-analysis. For people of Ashkenazi (eastern European) Jewish descent, BRCA1 and BRCA2 mutations are 10 times more common than in the general U.S. population. (1) BRCA mutations also raise your risk for a number of cancers in addition to breast and ovarian, such as pancreatic cancer.
Is There a Genetic Test for Ovarian Cancer?
Genetic tests are available to detect mutations in BRCA1, BRCA2, and other genes that could be involved in ovarian cancer. A blood or saliva test is typically sent to a lab, and it usually takes about a month to get the results. (3) One out of every five women with ovarian cancer will test positive for an inherited gene mutation. (4) If you don’t have cancer but have a family history of cancer and are interested in knowing your risk, genetic testing is usually first performed on a relative with cancer. (5) This will help determine whether the disease is due to an inherited mutation or a spontaneous occurrence. If there’s no relative available, your blood or saliva can still be examined to check for mutations.
What Does the Test Cost, and Is It Covered by Most Insurances?
Genetic testing for ovarian cancer can be pricey. The test usually runs around $2,800 for the first family member. If a mutation is found, testing other family members typically costs about $350. If you’re of Ashkenazi Jewish descent, testing is simpler and costs around $400. Many insurance companies cover the expense of testing, but some require specific criteria for approval. Others will partially cover the test or won’t cover the test at all.
Genetic Testing Guidelines to Follow
Deciding to undergo genetic testing is a personal choice that you can make based on your family history and other factors. Every woman diagnosed with ovarian-type cancers meets national guidelines for genetic counseling and genetic testing. (4) The U.S. Preventive Services Task Force (USPSTF) recommends that primary care doctors evaluate women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer, or who have ancestry associated with BRCA1 or BRCA2 mutations, with a risk assessment tool. (6) If a woman obtains a positive result, she should receive genetic counseling, and if recommended, genetic testing. The USPSTF doesn’t recommend routine risk assessment, genetic counseling, or genetic testing for women who don’t have a personal or family history or ancestry that’s associated with BRCA1 or BRCA2 gene mutations.
Should You Get Genetic Testing?
The following factors suggest an increased risk of having a BRCA1 or BRCA2 mutation, according to Mayo Clinic and the American Society of Breast Surgeons:
A personal history of breast cancer (female or male)A personal history of two or more types of cancerA personal history of ovarian cancerA personal history of prostate cancer or pancreatic cancer with two or more family members with BRCA-associated cancersA history of breast cancer at a young age in two or more close relatives, such as your parents, siblings, or childrenA relative with a known BRCA1 or BRCA2 mutationOne or more relatives with a history of cancer that would meet any of the above criteria for genetic testing
The ACS says genetic counseling and testing may be recommended for people who have had certain cancers or certain patterns of cancer in their family, including a cluster of cancers in your family that are known to be linked to a single gene mutation (such as breast, ovarian, and pancreatic cancers) or a known genetic mutation in one or more family members. (8) The purpose of genetic counseling is to give you information so that you can make your own decision about whether to get tested, and whether anyone else in your family should consider being tested, too. The counselor will discuss the upsides and downsides of testing, as well as the cost. They will also explain test findings and what your next steps might be. (9)
The Rise of the At-Home Gene Test Option
A number of companies now allow women to test for BRCA1 and BRCA2 mutations at home, without genetic counseling. (10) Two companies, Veritas Genetics and Color Genomics, require customers to provide the name and contact information of their physician, who must approve eligibility for the test. If you don’t have a physician, they can provide one who will review your case and order the test. Both companies can connect you with a genetic counselor if you don’t have one. A new generation of direct-to-consumer genetic tests do not require any involvement at all from a genetic counselor or doctor. The company 23andMe offers the Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). However, the test is limited: It can only detect three specific BRCA1 and BRCA2 mutations out of more than 1,000. These are the three that are most common among people of Ashkenazi Jewish descent, but not the three that are most prevalent in the general population. (11) Home-based tests do not provide information on a person’s overall risk of developing any type of cancer, and should not be used as a substitute for cancer screening or genetic counseling. (8)
You Have Your Test Findings. What Next?
Once you’ve taken the BRCA gene test, you can expect one of three results: positive, negative, or ambiguous. (3) A positive test result means that you have a mutation in the BRCA1 or BRCA2 genes, and therefore have a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn’t have the mutation. But a positive result doesn’t mean that you will definitely develop cancer. A negative test result means that no BRCA gene mutation was found. However, the test result is considered a “true negative” only if it finds that you don’t carry a specific BRCA mutation that’s already been identified in a relative. A negative test result doesn’t mean you definitely won’t get breast cancer. You still have the same cancer risk as that of the general population. An ambiguous result, also known as a variant of uncertain significance, occurs when the analysis finds a genetic variant that may or may not be associated with an increased risk of cancer. Most variants of uncertain significance are eventually reclassified into either a positive or negative result. Although the BRCA gene test can detect the majority of mutations in the BRCA1 and BRCA2 genes, you could have a gene mutation that the test wasn’t able to detect. Or you may be at high risk of hereditary cancer if your family carries a high-risk gene mutation that researchers haven’t yet identified. Your family may also have another hereditary cancer gene mutation that can be detected with other genetic tests. If your gene test was done more than five years ago, your doctor might recommend testing again with newer tests. If additional family members develop cancer, your doctor might also recommend additional genetic testing. Women who have mutations in ovarian cancer susceptibility genes should undergo ovarian cancer screening using a combination of transvaginal ultrasound and a blood test for CA-125 (a protein produced by more than 90 percent of advanced epithelial ovarian cancers, the most common form of ovarian cancer). (12) For women with mutations in BRCA1 or MLH1, MSH2, and MSH6, this screening should generally begin between ages 30 and 35. For women with mutations in BRCA2, ovarian cancer screening should begin between ages 35 and 40. However, it’s not clear that screening will result in a decrease in the number of deaths in women at inherited risk. Women with BRCA mutations should also consider reducing their risk by having their ovaries and fallopian tubes removed when childbearing is no longer a priority. (12) Another option for women with BRCA mutations (as well as for women with average ovarian cancer risk) is to begin taking oral contraceptives, which can reduce ovarian cancer risk. But the ACS notes that breast cancer risk goes up slightly with oral-contraceptive use. (13) Additional reporting by Julie Marks.
