2024-01-07 11:00:00
Elizabeth Meléndez Garbanzo’s story began in 2018, when she was diagnosed with breast cancer. She went through surgeries, chemotherapy and radiotherapy. Once she came out of that process, Dr. Géiner Jiménez Jiménez, who coordinates the Genetic Medicine department at the Calderón Guardia Hospital, recommended that she undergo tests to determine if her cancer had a hereditary link.
By then, she had not reached 50 years of age, so she was young for the average onset of the disease, but something else alerted the doctor and that is that the patient confirmed that she had several relatives who had had breast cancer and other organs.
In September 2021 she received news: she did not have a mutation that had made her more prone to developing cancer, she had two, in two very different genes. The discovery motivated genetic studies in her entire family.
Her father inherited a mutation in the BRCA2 gene, an acronym for “breast cancer 2.” Mutations in this gene not only almost double the risk of breast tumors, but also increase the chances of ovarian cancer by 18%. This variation in the gene also increases, although to a lesser extent, the chances of cancer in the pancreas, fallopian tubes and, in the case of men, the prostate.
Meanwhile, from his mother he inherited alterations in the TP53 gene, which are much less common in Costa Rica and have a more complex impact on health. According to the National Cancer Institute in the United States (NCI), mutations are believed to cause cancer cells to multiply and spread throughout the body.
“The doctor explained to me that there was nothing in the world that I would have done differently to not suffer from this. Genetics cannot be chosen and there is no other choice,” recalled this neighbor from San Sebastián, in San José.
Like Meléndez, there are members of seven other families in Costa Rica who have two mutations that predispose them to a higher risk of cancer. This condition makes the chances of developing this disease much higher, so the follow-up that must be done is more rigorous.
These seven families represent 0.64% of the 1,100 families that have so far been analyzed by the Genetic Medicine Program of the Costa Rican Social Security Fund (CCSS), coordinated by Jiménez. This program brings together the Laboratory of the National Children’s Hospital, where genetic analyzes are carried out, and the Calderón Guardia Hospital, where patients are received and given genetic counseling by professionals in Genetic Medicine, Psychology, Nutrition, Pharmacy and Nursing. These refer to the professionals that, depending on their risk, the patients will need.
Is this 0.64% more or less than what is seen in the world? According to Jiménez, it has been described in the world, but there is still a lack of study to know if it is more frequent or not than in other countries. It is in the process of analysis.
Meléndez’s case is different, since she is the first in her family to have both alterations, given that one was inherited from each parent. Her family analysis determined that her paternal uncle and one of her cousins have BRCA2 and on her maternal side, only her mother and she have the TP53 mutation. In other of the families studied, Jiménez explained, there are more members with two mutations in different genes.
The specialist pointed out that there are cases like Meléndez’s, where when doing the test two genetic alterations come to light, but there have also been cases in which there are relatives who developed breast cancer and other relatives who developed colorectal cancer, and When they examined the family they saw the presence of two mutations in different genes.
“The important thing regarding this is to analyze all the genes. If we had not done so, we would have missed genes that are of clinical importance. There are families with people with one mutation, with both or with neither, and this represents different risks,” said Jiménez.
The geneticist gave the example of a family where mutations coexist in the two most common hereditary risk genes in Costa Rica: BRCA2, which increases the risk of tumors in the breast, ovary, uterus, skin, pancreas and prostate, and ATM, which increases the chances of colorectal cancer. In cases like this, you must be more vigilant, with examinations and analyzes of various groups of organs.
In the case of TP53, Jiménez commented that the probabilities are increased in many places, so they can not only focus on the breast or ovary, but must also “walk” through other organs, such as the brain or pancreas.
Take decisions
Already with the news of having both mutations, this educator began to make decisions to go “one step ahead”, take care of her health and lower her risk of developing other types of cancer. One of them was to follow Jiménez’s advice to undergo a total bilateral mastectomy and completely remove both breasts.
“At the time, these decisions sounded very harsh. I already had surgery for cancer, much smaller, this was another world, but I didn’t even hesitate, if the genetics are there, we must act,” she stated.
In May 2022, this surgery was performed and her ovaries were also removed. They were tough surgeries, she recalled, because she was irradiated she had very little tissue for breast reconstruction and they had to take tissue from her back. Last August she already finished that process.
Dispensing with these tissues minimizes the risk of developing tumors in these organs as much as possible, but you should also have more frequent medical appointments. This way, you stay under control and carry out your daily activities.
These decisions are not mandatory. Each patient decides if they want to have the exam or if they want to wait or not have it at all; If it is done, he may opt for surgeries or frequent exams. The intention is to avoid the appearance of a tumor as much as possible. This is something that would not be done with the general population, but is offered to these people given the risk they present.
The obstacles
The surgeries that Meléndez underwent are to mitigate the risk of mutations in the BRCA2 gene; With the TP53 there are no specific surgeries to reduce the risk of impact. At 52 years old, this woman must then undergo several tests to see if everything is going well, and when an anomaly is detected, act with treatment.
These exams include annual colonoscopies and gastroscopy, and MRI scans every two years of the chest, brain, and entire body. However, to date they have not been able to do a single MRI to see his condition.
As he explained, the MRI center has its inclusion criteria, and since Genetic Medicine is something newer, they do not do the same analysis and suggest doing ultrasounds beforehand, but in his particular case, due to genetic conditions, the MRI is required to better visualize your organs. In private medicine she has not found options either, because the specific resonances with the contrast that she needs are not provided.
“There are people who are not so informed within the Fund itself. It’s the only mistake. They do not understand that MRIs are not a diagnosis to see if I have cancer, but rather it is preventive and a more in-depth examination is required.
“The stress of having had a diagnosis and being a cancer patient already exists. The additional stress is because there are mutated genes that can be a time bomb in one’s body, and one hopes that the services will understand, understand and facilitate this. But we are still in its infancy,” he stated.
This is not the only case. In December 2022, Kattia Abarca, who has a mutation in the BRCA2 gene, reported that the Max Peralta Hospital in Cartago did not want to perform a mastectomy on the grounds that she did not have cancer and there were patients with the disease who were a priority. For this neighbor from Llano Bonito de León Cortés it was very difficult to get to San José. After her complaints, she was scheduled for surgery.
Jiménez indicated that, to the extent possible, these patients receive all their attention at the Calderón Guardia to avoid these situations, but it is not always possible with people who live far away from there. For this reason, health professionals from regional and peripheral health centers are also being educated.
“We give all the patients we diagnose a report, where the guidelines we recommend are very specific, so that their primary care doctors are informed of how often they need the exams and can get what they need,” he stated.
Both Jiménez and Meléndez trust that as time goes by and there is more widespread information regarding Genetic Medicine, the path will be paved for these people in all health centers.
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