Genetic medicine identifies seven families with double mutation at cancer risk

Elizabeth Melendez Garbanzo’s story began in 2018 when she was diagnosed with breast cancer. He underwent surgery, chemotherapy and radiation therapy. As soon as he emerged from this process, Dr. Gainer Jiménez Jiménez, who coordinates the genetic medicine department at the Calderon Guardia Hospital, recommended that he undergo testing to determine whether his cancer was hereditary.

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

In September 2021, she received the news: she did not have the mutation that increases her likelihood of developing cancer. I had two of them, with two completely different genes. This discovery prompted genetic research on his entire family.

His father inherited BRCA2 gene mutation, an acronym in English meaning “breast cancer 2”. Mutations in this gene not only nearly double the risk of breast tumors, but also increase the likelihood of ovarian cancer by 18%. This gene variation also increases, although to a lesser extent, the likelihood of developing cancer of the pancreas, fallopian tubes and, in the case of men, prostate cancer.

Meanwhile, He inherited changes in the TP53 gene from his mother., which are much less common in Costa Rica and have more complex health effects. According to the US National Cancer Institute (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 do differently to avoid suffering from this. You can’t choose genetics, and there’s no other choice,” recalls a neighbor from San Sebastian in San Jose.

Like Melendez, there are members of seven other families in Costa Rica who have two mutations that predispose them to a higher risk of developing cancer. This condition significantly increases the likelihood of developing this disease, so stricter follow-up is necessary.

Are seven families represent 0.64% of 1,100 families. which have so far been analyzed by the Genetic Medicine Program of the Costa Rica Social Security Fund (CCSS), coordinated by Jiménez. This program combines the laboratory of the National Children’s Hospital, where genetic testing is carried out, and the Calderon Guardia Hospital, where patients are seen and given genetic counseling by specialists in the fields of genetic medicine, psychology, nutrition, pharmacy and nursing. They refer to the specialists that patients will need, depending on the risk.

Is this 0.64% more or less than what is observed in the world? According to Jimenez, it has been described around the world, but there is still not enough research to know whether it is more common or not than in other countries. This is in the process of analysis.

Melendez’s case is different because she is the first in her family to have both changes, given that one of them was inherited from each parent. Family analysis showed that her paternal uncle and one of her cousins ​​have BRCA2, and on her mother’s side only her mother and she have the TP53 mutation. Other families studied, Jimenez explained, have more members with two mutations in different genes.

The specialist noted that there are cases like Melendez’s where the test reveals two genetic changes, but there have also been cases where relatives have developed breast cancer and other relatives have developed colorectal cancer, and when they were examined in the family, they saw the presence of two mutations in different genes.

“The main thing in this is to analyze all the genes. If we didn’t do this, we would miss genes that are clinically relevant. There are families where you have people with one mutation, both, or neither, and that poses different risks,” Jimenez said.

The geneticist gave an example of a family in Costa Rica where mutations of two of the most common hereditary risk genes coexist: BRCA2, which increases the risk of tumors of the breast, ovary, uterus, skin, pancreas and prostate, and ATM, which increases the likelihood of colorectal cancer. In such cases, it is necessary to be more vigilant, to conduct examinations and analyzes of various groups of organs.

In the case of TP53, Jimenez noted that the probability increases in many places, so they may not only focus on the breast or ovary, but also have to “pass” through other organs, such as the brain or pancreas.

Make decisions

Having learned that he had both mutations, this educator began making decisions to stay ahead of the curve, take care of his health, and reduce his risk of developing other types of cancer. One was to follow Jimenez’s advice and undergo a complete bilateral mastectomy and have both breasts completely removed.

“At that time, these decisions sounded very tough. I already had an operation for cancer, much smaller, it was a different world, but I didn’t even hesitate, if there are genetics, we have to act,” he said.

In May 2022, she had surgery and had her ovaries removed. She recalled that these were difficult surgeries because she had been irradiated, had very little tissue for breast reconstruction, and they had to take tissue from her back. This process was already completed in August last year.

Avoiding these tissues will minimize the risk of developing tumors in these organs, but you should also visit your doctor more often. This way you stay in control and carry out your daily activities.

These decisions are not binding. Each patient decides whether he wants to undergo the examination, whether he wants to wait or not to undergo it at all; If yes, then you can choose surgery or frequent checkups. The goal is to avoid tumor development as much as possible. This is something that will not be done to the general population, but is offered to these people given the risk they pose.


The surgeries Melendez underwent are designed to reduce the risk of mutations in the BRCA2 gene; When using the TP53, no special operations are required to reduce the risk of impact. At 52 years old, this woman should then undergo several tests to make sure everything is normal and, if an abnormality is detected, begin treatment.

These screenings include annual colonoscopies and gastroscopy, as well as biannual MRI scans of the chest, brain and whole body. However, to date they have not been able to do a single MRI to assess his condition.

As he explained, the MRI center has its own inclusion criteria, and since genetic medicine is something newer, they do not do the same analysis and offer to do an ultrasound in advance, but in his particular case, due to genetic diseases, an MRI is required for more qualitative survey. visualize your organs. She also did not find any options in private medicine, because specific resonances with the contrast she needed were not provided.

“There are people in the Foundation itself who are not so informed. This is the only mistake. They don’t understand that an MRI is not a diagnostic to determine whether I have cancer, but rather a preventive one and a more in-depth examination is required.

“The stress of being diagnosed and having cancer is already there. Additional stress comes from the fact that there are mutated genes in the human body that can become a ticking time bomb, and it is hoped that services will understand, understand and alleviate this. But we are still in our infancy,” he said.

This is not the only case. In December 2022Kattia Abarca, who has a BRCA2 gene mutation, said that the Max Peralta Hospital in Cartago did not want to perform a mastectomy on the grounds that she does not have cancer and there are patients with the disease who are a priority. This neighbor from Llano, Bonito de Leon Cortes, had great difficulty in reaching San José. After his complaints, surgery was scheduled.

Jimenez noted that, as far as possible, these patients are given full attention in the Calderon Guard to avoid such situations, but this is not always possible for people who live far away from there. For this reason, health workers from regional and peripheral health centers are also trained.

“We provide all patients we diagnose with a report that makes the recommendations we recommend very specific so that their primary care physicians are informed of how often they need to be screened and can get what they need.” “, he said.

Both Jimenez and Melendez believe that over time, as information about genetic medicine becomes more widespread, a path will be paved for these people into all medical centers.

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