Congratulations!There is a genetic mutation!
In the outpatient clinic, when I see the genetic test report of an ovarian cancer patient, I will say this to the patient with BRCA mutation, most patients and their families will be at a loss, please allow me to explain them one by one.
Why, having a BRCA gene mutation is a good thing for ovarian cancer patients?There are several reasons for this:
BRCA mutations are themselves relevant indicators of prognosis in ovarian cancer patients。In layman's terms, patients with BRCA mutations, even without targeted drugs (see follow-up), have a better prognosis (survival outcome) than those without BRCA mutations. In other words, without the influence of any targeted drugs (without targeted drugs), patients with BRCA mutations** work better than those without mutations. Of course, this is the general rule. We have also seen patients with BRCA mutations** who did not have satisfactory results. This is the tumor, and although there is a pattern, there are still individual differences.
Patients with BRCA mutations tend to be sensitive to platinum drugs and respond well。Patients and family members know that platinum-based drugs are crucial in ovarian cancerA good response to platinum drugs means that the effect is good. Conversely, almost all patients will eventually develop platinum resistance;Once platinum is resistant, there is no good **. Some patients, we found that after using platinum so many times, they were still sensitive, and we wondered if it was a BRCA mutation
Targeted drugs are most effective in patients with BRCA mutations。PARP inhibitors (olaparib, niraparib) are really an important milestone in the history of ovarian cancer, making a qualitative leap in ovarian cancer maintenance. Its mechanism of action, let's put it simply, DNA damage, has 2 swelling repair mechanisms: 1) single-stranded repair mechanism;2) Double-strand repair mechanism. PARPASE mainly acts on single-chain repair, and PARP inhibitors inhibit PARPASE, so it affects single-chain repairThe BRCA gene, on the other hand, is an important member responsible for double-strand repair. Therefore, with a BRCA mutation, the use of PARP inhibitors is equivalent to "breaking 2 legs". 1 leg is still good to walk, but if 2 are missing, it will be difficult to walk.
In summary, this is why when I saw the BRCA mutation, I was happy for my patients from the bottom of my heart!
Of course, some of the mutations are heritable, which we call germline mutations, and at this time, we should pay attention to:
Remind patients to monitor their breasts regularly and be vigilant for breast cancer！We have encountered a lot of breast + ovarian double primary, which is the horror of the BRCA gene.
At the same time, we would like to remind the patient's immediate family members to undergo isotope genetic testing。Here, I would like to remind you that the patient's detection of the BRCA gene is very complicated, which is equivalent to "finding a needle in a haystack", but once this "needle" is caught, her immediate family can mainly test this "needle", which will be cheaper + save a lot of time. If an immediate family member has a mutation in this gene, be sure to check the mammary gland frequently, and if you are eligible, you canProphylactic removal of bilateral ovaries + fallopian tubes(Ovarian cancer is the silent killer).
Summarize the content I share with patients and family members in the outpatient clinic and daily work, and share it with more friends!Thank you for your attention!