* Actress Angelina Jolie’s decision in May 2013 to undergo a double preventive mastectomy after learning that she was carrying a mutation in a gene called BRCA1 ignited a dialogue about breast cancer risk and genetic testing.
* This decision has made many women wonder in which cases it would be advisable to undergo this operation.
More than 20 years after the molecular mechanism that allows BRCA (1 and 2) gene mutations to be the cause of several cancers (mainly breast and ovarian) with a large hereditary component was revealed scientifically, at HC Marbella we want to offer you updated information about the analytical tests necessary for the detection of BRCA mutations and the risk of cancer.
Today, genetic tests are available to detect carriers of genetic mutations that have been linked to an increased risk of breast and ovarian cancer throughout life. The results of these tests can help women make informed decisions, such as whether the breast should be surgically removed (preventive mastectomy) or the ovaries (preventive oophorectomy) to reduce the risk of cancer.
Since the BRCA1 and BRCA2 mutations were identified, great advances have been made in the prevention and early detection of breast cancer. At HC Marbella we encourage women and their families to consider these factors when weighing their options.
Next we answer the questions that we consider most interesting that women and their families understand about genetic tests and their options in case of giving positive results.
It is very important for women to talk with their doctors if they have a personal history of breast cancer or close relatives who have had breast, ovarian or prostate cancer or other cancers. Other important risk factors for carrying a BRCA mutation include having had breast cancer at an early age (before age 50), having breast and ovarian cancer, having a male relative with breast cancer and being of descent Jewish from Eastern Europe. In addition, all women with a personal history of ovarian cancer, regardless of their family history, should undergo an analytical study to see if they carry a mutation in the BRCA genes.
While a significant number of women with breast cancer have a family history of the disease, only a small number are advised to have a genetic test. Only 5 to 10 percent of women with breast cancer will have an inherited risk of the disease due to BRCA mutations or other mutations.
genetic tests are not just a mere blood test; it is a diagnostic process that reveals important information, which often involves the patient and his family and requires further genetic counseling. At HC we like to see patients with their sisters, their mothers, their loved ones, as a support and to allow women and their families to make mutual decisions about detection and prevention.
The woman therefore needs specialized medical advice to review the entire family history in search of a history of cancer and other risk factors in order to request the test according to the patient. In the event that the patient complies with the indications and wishes to carry out the study, the genetic test carried out on a blood sample will be processed and the results will be communicated in just a few weeks.
It is vital to translate these results transcendently through a subsequent genetic counseling to analyze all available options in case the test is positive. Keep in mind that a positive result means that there is a mutated gene in the predisposing family of cancer and it may be necessary to extend the study to other members of the same.
If a woman is positive for a BRCA mutation, she is not only at an increased risk of developing breast cancer throughout her life (50/75% chance) but also an increased risk of ovarian cancer (30/45%). The latter is even more relevant because there is no evidence to detect it early, when it is potentially curable.
In general, when a patient undergoes the test, even when it is positive, it is very rewarding for her and her family, as long as they can carry out actions that are ahead of the probability of suffering from the disease.
Preventive surgery is the most recommended option, which includes removal of the glandular tissue with skin preservation and immediate reconstruction and surgical removal of the tubes and ovaries in women who no longer expect to have children.
Another option, in women who decide to delay the time of surgery or who prefer not to carry it out, consists of maintaining a strict follow-up at least every six months. In our Oncology service of HC Marbella we have the necessary technology to detect the slightest change that suggests the performance of a biopsy or other tests such as breast magnetic resonance.
In addition, in some cases, we can offer preventive medical treatment with drugs such as tamoxifen or with aromatase inhibitors, which can halve the risk of hormone-dependent breast cancer.
Women who undergo a preventive bilateral mastectomy will undergo an extirpation of the mammary gland while preserving the skin and subcutaneous fat and the patient will be chosen if she wishes to preserve the nipple and areola (improves the aesthetic result but retains 2% of breast tissue). It is not necessary to analyze the axillary lymph nodes. It is finalized plastically reconstructing both breasts by prosthetic replacement of the excised tissue, assessing the opinion of the patient as far as possible with respect to volume and shape and preserving the symmetry with, generally, a final aesthetic result highly valued by the patients.
The research does not rest and given that more and more families are carrying out the genetic tests, new genetic variations of these same genes are discovered that we did not know were risky.
In addition, DNA sequencing methods are being improved, which is making it possible to discover new genes associated with the hereditary risk of breast or ovarian cancer.
Sources: Breastcancer.org / Memorial Sloan Kettering Cancer Center/ Asociación Española Contra el Cáncer.
October 18, 2018
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