Genetic medicine identifies seven families with dual cancer risk mutations

Elizabeth Meléndez Garbanzo’s story began in 2018, when she was diagnosed with breast cancer. He underwent surgery, chemotherapy and radiation. When he completed the procedure, Dr. Géiner Jiménez Jiménez, coordinator of the Department of Genetic Medicine at the Calderón Guardia Hospital, recommended that he undergo tests to determine whether his cancer was genetically related.

At that time, she was not yet 50 years old, so the average onset time was still relatively young, but one thing that reminded the doctor was that the patient confirmed that she had several relatives with breast cancer and other organ diseases.

In September 2021, she received news that she did not carry a mutation that made her more susceptible to cancer. I have two, two very different genes. The discovery sparked genetic research across his family.

his My father inherited a BRCA2 gene mutation, the abbreviation of “breast cancer 2” in English. Not only does this gene mutation nearly double the risk of breast tumors, it also increases the risk of ovarian cancer by 18%. This genetic variant also increases the risk of pancreatic cancer, fallopian tube cancer, and, although to a lesser extent, prostate cancer in men.

at the same time, He inherited an alteration in the TP53 gene from his mother, which is less common in Costa Rica but has more complex health effects. According to the National Cancer Institute (NCI), mutations are thought to cause cancer cells to multiply and spread throughout the body.

“The doctor explained to me that there was nothing in the world I would have done differently to avoid suffering this pain. Genetics was not an option and there were no other options,” the neighbor from San Sebastian, San Jose, recalled road.

Like Meléndez, members of seven other families in Costa Rica also have two mutations that put them at a higher risk of developing cancer. This condition makes the chances of developing the disease higher, necessitating more rigorous follow-up.

yes 7 households account for 0.64% of the 1,100 households So far, the data have been analyzed by the Genetic Medicine Program of the Costa Rica Social Security Fund (CCSS), coordinated by Jiménez. The project brings together the laboratories of the National Children’s Hospital, which performs genetic analysis, and the Calderon Guardia Hospital, which receives genetic counseling from professionals in genetic medicine, psychology, nutrition, pharmacy and nursing. These refer to the professionals a patient needs based on their risk.

Is this 0.64% more or less than what the world sees? Jimenez said it has been described around the world, but there is a lack of research to understand whether it is more frequent than in other countries. It is in the process of analysis.

Melendez’s situation is different because she is the first in her family to have both genetic mutations, as they are inherited from both parents. Family analysis determined that her uncle and one of her cousins ​​had BRCA2, while on the maternal side, only she and her mother had the TP53 mutation. Jimenez explained that in other families studied, many more members had both mutations in different genes.

Experts point out that there are cases like Melendez’s where two genetic alterations were found when they were tested, but there are also cases where relatives have had breast cancer and other relatives have had colorectal cancer, and when they were tested They found two mutations in different genes in this family.

“It’s important to analyze all genes. If we don’t do that, we’ll miss genes that are clinically important. Some families have members with one mutation, some families have both mutations, or neither, and that’s represent different risks,” Jiménez said.

Geneticists cite the example of a family in Costa Rica with co-occurring mutations in two of the most common inherited risk genes: BRCA2, which increases the risk of breast, ovarian, uterine, skin, pancreatic and prostate tumors; and ATM, It increases the risk of breast, ovarian, and prostate cancer. Chances of colorectal cancer. In this case, you must be more vigilant and examine and analyze various groups of organs.

In the case of TP53, Jimenez commented that the probabilities are increased in many places, so they can not only focus on the breasts or ovaries, but also have to “walk through” other organs, such as the brain or pancreas.

She has two genetic mutations that increase her risk of cancer

After learning about having both mutations, the educator began making the decision to “take a step forward” to take care of her health and reduce her risk of other types of cancer. One of them was to follow Jimenez’s advice and have a bilateral mastectomy, the complete removal of both breasts.

“At the time, these decisions sounded very harsh. I had already had surgery for cancer, much smaller, and it was a different world, but I didn’t even hesitate that if the gene was there, we had to act,” he said.

In May 2022, this operation was performed and her ovaries were also removed. It was a difficult surgery, she recalled, because she had been exposed to radiation so there was very little tissue for breast reconstruction and they had to take tissue from her back. This process concluded last August.

Giving up this tissue can minimize the risk of tumors developing in these organs, but you should also seek medical attention more frequently. This way, you can maintain control and carry out your daily activities.

These decisions are not mandatory. Each patient can decide if they want to be tested, if they want to wait, or not to be tested at all; if they do, you may choose surgery or more frequent tests. The goal is to avoid the appearance of tumors as much as possible. This is something that would not be done for the general population, but given the risks these individuals face, we offer this service to them.

Elizabeth Melendez has two genetic mutations that make her susceptible to cancer.Photography: Courtesy

The surgery Melendez underwent was to reduce the risk of the BRCA2 gene mutation; for TP53, no specific surgery was needed to reduce the risk of impingement. The 52-year-old woman had to undergo multiple tests to see if everything was going well and, if any abnormalities were found, receive treatment.

These include annual colonoscopies and gastroscopy, and biennial MRI scans of the chest, brain and whole body. However, so far they haven’t been able to get a single MRI to understand his condition.

As he explained, MRI centers have their inclusion criteria and since genetic medicine is a newer thing, they don’t do the same analysis and recommend an ultrasound beforehand, but in his particular case, due to a genetic condition, it was needed An MRI can better visualize your organs. She also found no options when it came to private medical care because it didn’t offer a specific resonance with what she needed.

“There were people within the IMF who were not that informed. That was the only mistake. They didn’t understand that the MRI was not diagnosing whether I had cancer, but that it was preventative and required a more in-depth examination.”

“The stress of being diagnosed with cancer and being a cancer patient is already there. The added stress is of having mutated genes in the body that can become time bombs, and people want services to understand, understand and facilitate this. But we’re still in the early stages,” He said.

This is not the only case. December 2022Kattia Abarca, who has a BRCA2 gene mutation, reports that the Max Peralta Hospital in Cartago does not want to perform a mastectomy because she does not have cancer and there are patients with the disease is a priority. For this neighbor from Llano Bonito de León Cortés, traveling to San José is difficult. Following his complaint, surgery was scheduled.

Jiménez said these patients receive all possible attention at the Calderón Guardia hospital to avoid these situations, but this is not always possible for people who live far away. Therefore, health professionals from regional and surrounding health centers are also being educated.

“We provide all patients with a diagnosis with a report in which the guidelines we recommend are very specific so that their primary care physician understands how often they need to be tested and can get what they need,” he said.

Jiménez and Meléndez both believe that as time goes by and information about genetic medicine becomes more widespread, all health centers will pave the way for these people.

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