Madrid, January 31, 2023- When a tumor is found in a patient at an early age and it is not the first case in the family, there is a chance it is a hereditary cancer. Being aware of the situation helps to deal with it in time and that is important in choosing the right approach and treatment. The importance lies in the fact that, according to medical statistics, between 5% and 10% of tumors are hereditary in origin1. For that reason, a genetic study and analysis of family history play a key role in the early diagnosis of hereditary cancer.
Aware of that, in Hereditary Cancer Genetic Counseling consultation, potential tumor-causing genes are identified, BRCA1 in breast cancer, and each patient's risk of developing a tumor is evaluated. As Dr. Ricardo Cubedo, head of the Multidisciplinary Hereditary Cancer Genetic Counseling Unit at MD Anderson Cancer Center Madrid, explains, “not all patients who come in for a study have mutations. Our role at the Genetic Counseling Unit is to determine and analyze which gene is affected, which gene exists and to study the history of the family to assess the potential risk of suffering cancer in the future.”
Thus, in addition to carrying out a genetic study, it is important to know the family history for prevention and early diagnosis. “There can be two similar families with the same mutation in the same gene and in one there may be a case of breast cancer and in the other there may be 16 women affected. It will be in the second family that we do more frequent check-ups”, says the specialist. In that way, healthy people at the highest risk are monitored annually to detect any tumors at an early stage when they are still curable.
In the words of Dr. Cubedo, "for instance, detecting stage 1 pancreatic cancer is devasting news for the patient, but for medical professionals it means they have diagnosed the cancer at a curable phase, and they know that, otherwise, the patient would have come to the emergency room with an inoperable pancreatic tumor within two years.”
Despite that, what is passed on from generation to generation is not the disease itself, but the risk of developing it, which means there is no certainty that cancer will develop in all cases.
An increase in tumors in the family leads patients to a consultation
The patients who come to the Hereditary Cancer Genetic Counseling Unit do so for a variety of different reasons explains the specialist at MD Anderson Madrid. “Some come on their own initiative because there are several cases of cancer in their family, or they are worried because recently a family member has had cancer and they want to know if that would have something to do with genetics. On other occasions, it is the oncologists themselves, particularly those who diagnose and treat digestive or breast tumors, which tend to be more hereditary in nature, who notice some of the red flags that make us think there may be a mutation.”
In patients who are aware, Dr. Cubedo goes on to say, it is common that, despite there being no mutation, and, as a result of the study carried out, they begin to have screening they had not previously had, such as prostate checks, annual colonoscopy or skin blemish exams.
In addition, it is becoming more common to carry out genetic analyses of already diagnosed tumors to identify genetic clues on how to treat it. That is when the oncologist may discover mutations and analyze their involvement in the development of the tumor.
The benefits of video consultation in the follow-up of hereditary cancer
To facilitate patient visits, MD Anderson Madrid has created a specific video consultation platform which allows the modality to be integrated with clinical history modules and computer system agendas.
“This type of consultation makes follow-up consultations much easier for a lot of patients. Some live outside Madrid or Spain and others are often very busy and it is just not convenient for them to travel to a consultation. In fact, in the first session, which is merely informative, they tell me about themselves and explain their family tree to see if they need a genetic study or not, and we can do that perfectly by video consultation.”
- Cáncer hereditario. Sociedad Española de Oncología Médica (SEOM) https://seom.org/images/Libro_Cancer_hereditario_2019.pdf