Genetic medicine has identified seven families with double cancer risk mutations

Elizabeth Melendez Garbanzo’s story began in 2018, when she was diagnosed with breast cancer. He underwent surgery, chemotherapy and radiotherapy. Once he was out of that process, Dr. Gainer Jimenez Jimenez, who coordinates the Department of Genetic Medicine at the Calderon Guardia Hospital, recommended that he undergo tests to determine if there is a hereditary link to his cancer.

By then, she had not reached the age of 50, so she was young for the average onset of the disease, but something else alerted the doctor and that was that the patient confirmed that she had many relatives who had breast cancer and other organs. .

In September 2021 she got the news: she didn’t have the mutation that made her more likely to get cancer, I had two, two in very different genes. This discovery inspired genetic studies throughout his family.

their The father inherited a mutation in the BRCA2 gene, an acronym in English for “breast cancer 2”. A mutation in this gene not only nearly doubles the risk of breast cancer, but increases the chance of ovarian cancer by 18%. This variation in the gene also increases, although to a lesser extent, the chances of developing cancers of the pancreas, fallopian tubes and, in the case of men, prostate.

Meanwhile, He inherited a mutation in the TP53 gene from his mother, which is much less common in Costa Rica and has more complex health effects. According to the National Cancer Institute (NCI) in the United States, the mutation causes 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 avoid suffering from this. Genetics cannot be chosen and there is no other choice,” recalled this neighbor from San Sebastian in San Jose.

Like Melendez, there are seven other families in Costa Rica who have two mutations that increase their risk of cancer. This condition greatly increases the chances of developing the disease, so the follow-up that should be done is more rigorous.

is Seven families represent 0.64% of the 1,100 families That has 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 analysis is 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. This refers to professionals that, depending on their risk, patients will need.

Is this 0.64% higher or lower than what is found in the world? According to Jimenez, it has been described in the world, but there is still a lack of studies to know if it is more frequent than in other countries. It is under analysis.

Melendez’s case is different, as he is the first in his family to have both mutations, although he inherited one from each parent. Family analyzes determined that her paternal uncle and one of her cousins ​​have BRCA2, and on the mother’s side, only her mother and her have the TP53 mutation. In other families studied, Jimenez explained, there are more members with two mutations in different genes.

The expert pointed out that there are cases like Melendez’s, where two genetic changes come to light during testing, but there have also been cases in which relatives who have developed breast cancer and other relatives who have developed colorectal cancer, and when they test In the family they observed the presence of two mutations in different genes.

“The important thing about this is to analyze all the genes. If we had not done so, we would have missed genes of clinical importance. There are families that have people with a single mutation, both together or both, and these represent different risks,” Jimenez said.

The geneticist gave the example of a family where mutations in two of the most common inherited risk genes coexist in Costa Rica: BRCA2, which increases the risk of tumors in the breast, ovary, uterus, skin, pancreas and prostate, and ATM, which increases Possibility of colorectal cancer. In such cases, you should be more vigilant with examinations and analysis of different groups of organs.

In the case of TP53, Jiménez commented that the potentials 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.

make decisions

Already with the news of both mutations, this teacher began making decisions to go “one step further,” take care of her health, and reduce her risk of developing other types of cancer. One of them was to follow Jimenez’s advice to undergo a total bilateral mastectomy and remove both breasts completely.

“At the time, these decisions seemed very harsh. I had already undergone cancer surgery, very minor, this was another world, but I did not even hesitate, if there is genetics, we should act,” he said.

In May 2022, this surgery was performed and her ovaries were also removed. They were difficult surgeries, she recalled, because she was irradiated, she had very little tissue for breast reconstruction and they had to take tissue from her back. The process ended last August.

Dispensing with these tissues reduces 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 in control and carry out your daily activities.

These decisions are not mandatory. Each patient decides if they want to have the test or if they want to wait or not at all; If you do, you may opt for surgery or frequent exams. The aim is to avoid the appearance of tumors as much as possible. This is something that would not be done with the general population, but is offered to these people considering the risk they present.

Obstacles

The surgeries Melendez underwent are to reduce the risk of mutations in the BRCA2 gene; There are no specific surgeries to reduce the risk of complications with TP53. At the age of 52, this woman must then go through several tests to see if everything is going well, and when an anomaly is found, act with treatment.

These exams include annual colonoscopy and gastroscopy, and biannual MRI scans of the chest, brain, and whole body. However, till date he has not been able to get a single MRI to check his condition.

As he explained, the MRI center has its inclusion criteria, and since genetic medicine is something new, they do not perform the same analysis and suggest an ultrasound beforehand, but in their specific case, due to genetic conditions, MRI is better required. Imagine your limbs. In private medicine she did not even get options, as she was not provided with special resonances with the necessary contrast.

“There are people who are not that knowledgeable in the fund itself. That is the only mistake. What they don’t understand is that an MRI is not diagnostic to see if I have cancer, but it is preventive and requires a more in-depth investigation.

“The diagnosis and the stress of being a cancer patient is already there. The added stress is because there are mutated genes that can become a ticking time bomb in one’s body, and one hopes that services will understand, understand and facilitate this. But we are still in its infancy,” he said.

This is not the only case. In December 2022Katia Abarca, who has a BRCA2 gene mutation, reported that at the Max Peralta Hospital in Cartago they did not want to perform a mastectomy because she did not have cancer and patients with this disease were the priority. Getting to San Jose was very difficult for this neighbor of Llano Bonito de Leon Cortés. After his complaints, surgery was scheduled.

Jimenez suggested that, as far as possible, these patients focus all their attention on Calderón Guardia to avoid these situations, but that is not always possible with people living far away. For this reason, health professionals from regional and peripheral health centers are also being educated.

“We give all patients a report, where the guidelines we recommend are very specific, so that their primary care doctors know how often they need tests and can get what they need,” he said.

Both Jimenez and Melendez are confident that as time goes on and genetic medicine becomes more widely known, it will pave the way for these people in all health centers.