When a patient has been diagnosed with ovarian cancer, she should always undergo genetic testing for BRCA mutations. That’s because the information that this ovarian cancer hereditary test reveals could be of vital importance: both to the patient’s family members and to the patient herself. (Panel genetic testing is also recommended as there are other genes involved in HRD pathway (Rad51, Palb2) that are also associated with breast and ovarian cancers.)
A BRCA mutation can occur in one of two genes—BRCA1 or BRCA2. These genes encode for tumor-suppressor (or caretaker) proteins. The proteins are unrelated; BRCA1—first identified in 1990—is on chromosome 17. BRCA2—first identified in 1994—is on chromosome 13. But both proteins are responsible for a critically important error-free DNA repair process (homology directed repair). When there’s a mutation on either of these two genes, that repair process is compromised, and the damaged DNA is not repaired properly.
As a result, researchers have determined that testing positive for the BRCA mutation spells an increased risk of ovarian cancer, as well as for other kinds of cancers, most notably for breast cancer. Mutation of the BRCA1 gene has also been linked to an increased risk for uterine cancer and colon cancer. Mutation of the BRCA2 gene means a greater susceptibility to stomach cancer, gallbladder cancer, and bile duct cancer, as well as to melanoma.
These mutations are hereditary, meaning the presence of a mutation in your BRCA genes increases the risk of the mutation’s existence in your children and ancestors as well. If the BRCA1 or BRCA2 mutation is identified in your genes, the likelihood that other family members will receive ovarian cancer diagnoses later is significantly higher.
But identifying the BRCA mutation isn’t just about letting the patient’s family members know to be vigilant with screening. There are new therapies available for ovarian cancer patients with BRCA mutations, as well as encouraging research being done to improve health outcomes.
Most notably, a new phase III SOLO-1 study showed tremendous promise for the treatment of ovarian cancer patients with BRCA1 or BRCA2 mutations. The multiyear study indicated that when ovarian cancer patients received olaparib — a poly ADP ribose polymerase (PARP) inhibitor — in the early stage setting of an underlying BRCA1 or BRCA2 mutation, they showed strong improvements in progression-free survival (PFS) rates. According to the doctors leading the double-blind study, the patients who received the PARP inhibitor saw progression-free survival rates approximately three years longer than the placebo control group. After 36 months, 60% of the patients who had received olaparib (trade name Lynparza) remained progression-free, compared to 27% of the patients who had been in the placebo arm of the study.
Ovarian cancer is one of the leading causes of cancer death in women worldwide, with a five-year survival rate of 47%. Time will tell us if some of these women with BRCA1 or BRCA2 mutations can be cured with PARP inhibitors, which offer much hope. It’s a dramatic idea to consider, but an idea that the study’s dramatic results has brought into the mainstream.
All women with ovarian cancer, at the time of diagnosis — not recurrence — should undergo genetic testing, regardless of her age, the type of ovarian cancer that she has, or her family history. Even women with no familial history of ovarian cancer could have the BRCA1 or BRCA2 mutation genetically present. Whether that’s the result of their having small families (or a variety of other reasons), a lack of ovarian cancer diagnosis in the family is not a rational reason to forego being tested. Between the potential benefit to the family members and to the patient herself, it is important that patients understand the value in the genetic testing. Certain populations, e.g. Ashkenazi Jews and those with Mediterranean roots, are particularly susceptible to these mutations.
Learn more about SurvivorNet's rigorous medical review process.
Dr. Ursula Matulonis is the Chief of the Division of Gynecologic Oncology at Susan F. Smith Center for Women's Cancers at the Dana-Farber Cancer Institute. Read More
When a patient has been diagnosed with ovarian cancer, she should always undergo genetic testing for BRCA mutations. That’s because the information that this ovarian cancer hereditary test reveals could be of vital importance: both to the patient’s family members and to the patient herself. (Panel genetic testing is also recommended as there are other genes involved in HRD pathway (Rad51, Palb2) that are also associated with breast and ovarian cancers.)
A BRCA mutation can occur in one of two genes—BRCA1 or BRCA2. These genes encode for tumor-suppressor (or caretaker) proteins. The proteins are unrelated; BRCA1—first identified in 1990—is on chromosome 17. BRCA2—first identified in 1994—is on chromosome 13. But both proteins are responsible for a critically important error-free DNA repair process (homology directed repair). When there’s a mutation on either of these two genes, that repair process is compromised, and the damaged DNA is not repaired properly.
Read More As a result, researchers have determined that testing positive for the BRCA mutation spells an increased risk of ovarian cancer, as well as for other kinds of cancers, most notably for breast cancer. Mutation of the BRCA1 gene has also been linked to an increased risk for uterine cancer and colon cancer. Mutation of the BRCA2 gene means a greater susceptibility to stomach cancer, gallbladder cancer, and bile duct cancer, as well as to melanoma.
These mutations are hereditary, meaning the presence of a mutation in your BRCA genes increases the risk of the mutation’s existence in your children and ancestors as well. If the BRCA1 or BRCA2 mutation is identified in your genes, the likelihood that other family members will receive ovarian cancer diagnoses later is significantly higher.
But identifying the BRCA mutation isn’t just about letting the patient’s family members know to be vigilant with screening. There are new therapies available for ovarian cancer patients with BRCA mutations, as well as encouraging research being done to improve health outcomes.
Most notably, a new phase III SOLO-1 study showed tremendous promise for the treatment of ovarian cancer patients with BRCA1 or BRCA2 mutations. The multiyear study indicated that when ovarian cancer patients received olaparib — a poly ADP ribose polymerase (PARP) inhibitor — in the early stage setting of an underlying BRCA1 or BRCA2 mutation, they showed strong improvements in progression-free survival (PFS) rates. According to the doctors leading the double-blind study, the patients who received the PARP inhibitor saw progression-free survival rates approximately three years longer than the placebo control group. After 36 months, 60% of the patients who had received olaparib (trade name Lynparza) remained progression-free, compared to 27% of the patients who had been in the placebo arm of the study.
Ovarian cancer is one of the leading causes of cancer death in women worldwide, with a five-year survival rate of 47%. Time will tell us if some of these women with BRCA1 or BRCA2 mutations can be cured with PARP inhibitors, which offer much hope. It’s a dramatic idea to consider, but an idea that the study’s dramatic results has brought into the mainstream.
All women with ovarian cancer, at the time of diagnosis — not recurrence — should undergo genetic testing, regardless of her age, the type of ovarian cancer that she has, or her family history. Even women with no familial history of ovarian cancer could have the BRCA1 or BRCA2 mutation genetically present. Whether that’s the result of their having small families (or a variety of other reasons), a lack of ovarian cancer diagnosis in the family is not a rational reason to forego being tested. Between the potential benefit to the family members and to the patient herself, it is important that patients understand the value in the genetic testing. Certain populations, e.g. Ashkenazi Jews and those with Mediterranean roots, are particularly susceptible to these mutations.
Learn more about SurvivorNet's rigorous medical review process.
Dr. Ursula Matulonis is the Chief of the Division of Gynecologic Oncology at Susan F. Smith Center for Women's Cancers at the Dana-Farber Cancer Institute. Read More
