Cancer is a multifactorial disease; this means that it can be influenced by both hereditary and environmental factors. However, it is estimated that about 5 to 10% of cancers result directly from hereditary transmission, in which genetic mutations are the root cause.
What is familial and hereditary cancer?
It is a form of cancer caused by a mutation in genes passed down from parents to children, and it is a disease that is passed down from one generation to the next. Although a predisposition to cancer can be inherited, it is not a certainty that the disease will develop in every generation.
The risk factors in this case are:
- Hereditary predisposition.
- The environment.
- Lifestyle.
In recent decades, approximately 50 genes closely associated with hereditary syndromes that increase the risk of cancer have been analyzed and identified; this has provided us with more information about genetic patterns and has advanced the development of techniques for studying and classifying mutations.
Why is it important to identify hereditary cancer?
Identifying families with a high probability of inheriting a certain type of cancer or hereditary syndrome enables their members to make informed decisions about their health, improve their daily habits, and undergo early detection tests before tumors have grown significantly.
A predisposition to hereditary cancer can be identified when several members of the same family have cancer (generally of the same type), a pattern that originates in past generations and continues into future generations. Hereditary cancers tend to develop at an earlier age than those that occur sporadically.
Characteristics of Hereditary Cancer
- Tumor development at an early age.
- Several family members have the exact same type of cancer.
- It has occurred over several generations throughout the years.
- The disease develops bilaterally, that is, in both of the paired organs affected by cancer (both breasts, kidneys, lungs, etc.).
- One or more primary tumors have been detected within the family.
- It can cause rare tumors to develop in one or more of its members.
Major hereditary syndromes caused by genetic mutations
Hereditary Syndrome of Breast and Ovarian Cancer
There are families in which several female members have breast or ovarian cancer. Often, the cancer is diagnosed at a younger age than usual; some of these women may also develop more than one cancer at the same time, for example, in both breasts or in both the breast and ovaries. Cases like these are known as Hereditary Breast and Ovarian Cancer Syndrome (HBOC).
Both this syndrome and the onset of breast cancer, ovarian cancer, fallopian tube cancer, prostate cancer, and many other cancers are attributed to mutations in the BRCA genes, particularly BRCA1 and BRCA2.
Lynch syndrome
Lynch syndrome increases the likelihood of developing colon cancer, which often occurs in people under the age of 50. This hereditary syndrome also increases the risk of developing cancer of the endometrium, ovary, pancreas, stomach, kidney, and other organs. Lynch syndrome can result from any of the MMR gene mutations or others such as: MLH1, MSH2, MSH6, PMS1, PMS2...
Li-Fraumeni syndrome
This hereditary syndrome causes tumors to develop in multiple parts of the human body at an early age. It can lead to various types of cancers and sarcomas (including osteosarcomas, leukemia, brain tumors, and soft tissue sarcomas, among others). Li-Fraumeni syndrome is associated with mutations in the TP53 or CHEK2 genes.
Currently, people with a strong family history can undergo genetic testing (using a blood or saliva sample) to determine their genetic makeup; this is the first step toward taking timely action on any mutations that are found.
It should be noted that genetic testing is not appropriate in all cases, so it is recommended to seek specialized medical advice beforehand.
