This page was reviewed under our medical and editorial policy by
Maurie Markman, MD, President, Medicine & Science
This page was reviewed on May 18, 2022.
As researchers learn more about the human body’s genetic make-up and the genetic mutations that some people carry, they’ve uncovered additional DNA alterations that put individuals at high risk for some cancers.
If you carry one of these genetic mutations, your doctor may recommend more frequent cancer screenings. Depending on the mutation, you may be prescribed drugs designed to lower your risk for a particular cancer. And, if you’re at high risk for breast cancer or a gynecologic cancer due to an inherited gene, your doctor may suggest risk-reduction surgery as a cancer prevention option to consider. This procedure is also called prophylactic surgery or preventative surgery.
In 2013, actress Angelina Jolie famously underwent a double mastectomy—the removal of both of her breasts—after genetic tests revealed she had the BRCA1 gene mutation that put her at high risk for breast and ovarian cancer. Two years later, she had her ovaries and fallopian tubes removed in an operation called a laparoscopic bilateral salpingo-oophorectomy. Jolie made those choices knowing that her mother, aunt and grandmother had died from cancer.
Such preventative surgeries seek to remove susceptible organs before cancer has a chance to develop. The surgeries have been known to significantly reduce risk but can’t eliminate it, because it’s impossible to remove all the associated tissue.
At City of Hope, we understand the special nature of cancers that are unique to women. Each of our hospitals has a Women’s Cancer Center, with a gynecologic oncologist specializing in the treatment of women with cancers of the reproductive system—or women who may be at high risk for such cancers.
Cancer Treatment Centers of America® (CTCA) is now City of Hope®, joining forces to expand patient access to personalized, comprehensive cancer care.
The body’s cells are constantly dividing. Each time they do, they make a new copy of DNA. Sometimes mistakes are inserted into the DNA code, creating a genetic mutation or variant, due to environmental factors. Other times, however, a mutation is inherited from the individual’s ancestors.
Researchers continue to find genetic mutations that may put women at high risk for certain cancers. One category, HBOC or hereditary breast and ovarian cancer syndrome, involves BRCA mutation carriers, or individuals with BRCA1 or BRCA2 gene mutations.
Other variants that raise women’s risk of gynecologic and/or breast cancer involve these genes: ATM, TP53, PTEN, CDH1, CHEK2, PALB2 and STK11—and many more. Lynch syndrome, an inherited condition caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene, has been linked to colon, uterine, ovarian and other cancers.
Also, mutations to the BRIP1, RAD51D, RAD51C and BARD1 genes have been associated with a high risk for ovarian cancer.
Blood tests are now able to detect many of these gene mutations in a single, multiple-gene panel test. An estimated that 20 percent to 25 percent of women with ovarian, fallopian tube or peritoneal cancer may have inherited gene mutations.
Depending on the gene mutation, gynecologic prophylactic surgeries may range from a salpingectomy, which removes one or both fallopian tubes, to a total hysterectomy with bilateral salpingo-oophorectomy, which removes the fallopian tubes and ovaries.
The surgeries are mostly intended to reduce the risks of hereditary ovarian cancer, fallopian tube cancer and uterine cancer.
The surgery decreases the risk of developing a gynecologic cancer. If you’re at high risk for ovarian cancer or fallopian tube cancer, for instance, you may have cancer cells or pre-cancer cells already developing or present at the time of your surgery—there’s no good early-detection screening tool available to identify those cells at that point in time. In fact, about 3 percent to 6 percent of women undergoing risk-reduction surgery are diagnosed with early-stage cancer after a biopsy is performed on tissue removed during the surgery.
Some women are also at risk for developing cancer in the lining of the abdominal wall, because risk-reduction surgery cannot remove the entire lining.
In the general population, gynecologic cancers most commonly develop in women after menopause, but those at high risk tend to develop them earlier. In general, average age of onset for ovarian cancer, is typically about 58 for patients with BRCA2 mutations and about 48 for those with BRCA1 mutations, says Ruchi Garg, MD, National Program Director for Gynecologic Oncology at City of Hope Atlanta, Chicago and Phoenix.
“You want to do the prophylactic surgery almost about a decade earlier, so we recommend that women have the procedure anywhere between the ages of 37 to 40 to really maximize the benefit for BRCA1 patients,” Dr. Garg says. “For BRCA2 mutation patients, we say the surgery should be done by age 42 to 45.”
If you’re at high risk and contemplating risk-reduction surgery, you may want to consider the impact surgery may have on your child-bearing plans, as well as on your self-esteem, sexual identity and intimate relationships.
If you want to have children, your doctor may recommend more frequent screenings for reproductive organs until your family is complete. The screenings may also be an option if you’re considering postponing prophylactic mastectomy until after you’re done breastfeeding.
If you’re at high risk for breast and gynecologic cancers and are considering prophylactic surgery but are uncomfortable undergoing both at the same time, it’s a good idea to discuss with your doctor the order in which the separate surgeries would be performed. In such cases, Dr. Garg often advises performing ovarian surgery first because of the difficulty in detecting ovarian cancer. “A majority of breast cancer cases are picked up with screening at stage 1, while most ovarian cancer cases aren’t diagnosed until advanced stages,” she says.
While breast cancer may be more detectable, that doesn’t mean you should unduly delay prophylactic surgery. “Our preference at City of Hope is to remove the breast as early as the patient is comfortable with,” says Daniel Liu, MD, Plastic and Reconstruction Surgeon at City of Hope Chicago.
High-risk patients who undergo prophylactic surgery don’t need the more frequent screenings they had before the procedure, but they’ll still typically undergo some screening exams. After a hysterectomy and removal of the ovaries and fallopian tubes, for example, they may only need a follow-up, once-a-year exam and CA-125 (cancer antigen) blood test to check for signs of disease, like peritoneal cancer.
Women who have family histories of cancer should consider undergoing a cancer risk assessment evaluation as early as age 25 to help determine whether genetic testing is warranted.
Many patients worry about the testing: how costly it will be; whether insurance will cover it; whether it’ll make it more difficult to get health insurance or life insurance if the testing finds a genetic marker that has a known cancer link, etc. The genetic testing experts at City of Hope help patients work their way through such concerns and understand the importance of genetic testing and counseling.
The federal government has addressed many of these issues, including protecting patients from discrimination by insurance providers based on pre-existing conditions such as genetic make-up.
“I really do recommend that patients be empowered and get the testing done when they can,” Dr. Garg says. “Granted, some patients just don’t want to know, and I understand that. But when you do know, you can do something about it.”