We tend to consider BRCA gene mutations as a major risk to breast cancer – and they are. These mutations, which are present on genes that can normally help suppress tumor activity (19459006) by producing proteins that repair DNA, can increase the risk of other cancers, including ovarian cancer. With our growing understanding of the role that these mutations play in disease, knowing whether you have a BRCA mutation or not can also guide your therapy.
If you have been diagnosed with ovarian cancer, or you know that you have a BRCA1
After ovarian cancer diagnosis, your doctor will likely suggest a genetic test for BRCA mutations.
A BRCA mutation increases your risk for different types of cancer, especially for ovarian cancer, SELF previously stated . That and the fact that ovarian cancer is so rare means that it's a good idea – and usually recommended – for anyone who has been diagnosed with ovarian cancer to undergo a genetic test ] Sanaz Memarzadeh MD, Ph.D., professor and gynecological cancer surgeon at the Department of Obstetrics and Gynecology at the UCLA Ronald Reagan Hospital, reports to SELF.
If a patient's tests show that they are BRCA-positive, Dr. Memarzadeh She will refer the patient to other specialists to monitor other BRCA-related cancers, including pancreatic cancer and melanoma. A positive outcome may also have a health impact on the family. Therefore, it may be recommended that they too be tested. Your BRCA status could also affect your treatment, which we will discuss shortly.
If you know you have a BRCA mutation but have not yet been diagnosed with cancer, your doctor will suggest more frequent cancer tests. 19659007] In some cases the other way around: Patients without ovarian cancer diagnosis find that they are BRCA-positive (possibly through tests for breast cancer diagnosis) and referred for surveillance to a gynecological cancer specialist for ovarian cancer, Pamela T. Soliman MD, MPH, Professor and Center Medical Director of the Department of Gynecologic Oncology and Reproductive Medicine, Department of Surgery at the MD Anderson Cancer Center of the University of Texas, opposite SELF
In this case, your doctor may request a reinforced Screening For Ovarian Carcinoma (probably with a transvaginal ultrasound and a blood test for CA-125, a protein commonly found on the surface of ovarian cancer cells). Soliman. However, as SELF explained earlier, these measures are not perfect . So the most important thing is to get in touch with a doctor who can help you figure out what makes the most sense for your individual circumstances.
If you know you have ovarian cancer, your doctor may do so. If you are done with children, you should recommend preventive surgery. Traditionally, this meant removal of the ovaries and fallopian tubes (a process known as bilateral salpingo-oophorectomy) that sends the patient into menopause, explains Drs. Memarzadeh. However, we know that many epithelial ovarian cancers (by far the most common type [19459004) actually begin in the fallopian tubes, not in the ovaries. For example, some patients may be able to perform the procedure step-by-step, beginning with the removal of the fallopian tubes (which does not force the patient into menopause), and then later on to the ovaries. Soliman does not say that this could become more common in the next few years.
A BRCA mutation can affect the type of ovarian cancer treatment you receive.
Treatment in general for ovarian cancer requires a combination of chemo and surgery, says the Mayo Clinic . For epithelial carcinoma, surgical treatment usually involves the removal of the uterus (a hysterectomy), the ovaries, and the fallopian tubes, although these can be done at different times to see where the cancer has spread. Other treatment options include hormone therapy and several other targeted therapies.
If you have a BRCA mutation, you may be a good candidate for a specific targeted therapy: a poly (ADP) ribose polymerase (PARP) inhibitor. A relatively new type of treatment that exploits specific vulnerability, such as replicating and repairing the DNA of the tumor itself, explains. Soliman. Cancer cells that form in patients who are BRCA-positive also have mutations associated with BRCA genes that normally help to repair DNA, but are not functional in these cells. (BRCA-like mutations can also spontaneously form in people who are not BRCA-positive, but this process is not well understood.)
And that's where PARP comes in: PARP is an enzyme that normally also affects DNA Repairing yourself is usually a good thing. But when it comes to cancer cells, it's not so helpful. Blocking PARP – in addition to the existing BRCA mutation [19459004 – can prevent these cells from repairing if damaged. With only one or the other problem (related to BRCA or PARP), the cancer cells could still repair themselves. However, without her she is vulnerable and eventually dies . This technique, aimed at both repair methods, is referred to as " synthetic lethality ".
Unlike chemotherapy, these drugs are taken orally and can either be used to treat an active cancer, Dr. Memarzadeh or for maintenance (meaning, after a patient has recurred and was treated again with chemo). "This has changed dramatically as we treat patients who have a BRCA mutation," Dr. Soliman.
Your BRCA status is just one factor in your treatment, but it can have a big impact on you and your family.
A BRCA mutation is an important factor in choosing the right treatment plan. However, this is not the only thing doctors consider. Dr. Soliman says that it is important that you not only know your family and your personal cancer stories, but also the general health of a patient and their tolerability.
Chemotherapy and surgery can cause serious side effects even if they work as intended. And PARP inhibitors, although taken orally, may be associated with known side effects such as nausea and tiredness. "We have to take that into account too," she says.
But knowing your BRCA status, especially if you have ovarian cancer or a family history, can make a big difference to your treatment. "Genetic testing not only affects the rest [your] but also family members of [your]," says Dr. Memarzadeh. "It may also affect treatment planning now, so it's really important information for patients."