Cancer is a multifactorial disease; this means that it can be influenced by both hereditary and environmental factors. However, it is estimated that around 5 to 10% of neoplasms come directly from hereditary transmission, where genetic mutations are the origin of everything.
What is familial and hereditary cancer?
It is the one that develops by a mutation in the genes transmitted from parents to children, being a disease that goes from generation to generation. Although susceptibility to cancer can be inherited, it is not an exact fact that the appearance of the disease occurs in all generations.
The risk factors in this case are:
- Hereditary predisposition.
- The environment.
- Lifestyle.
In recent decades, approximately 50 genes that are closely related to hereditary syndromes that increase predisposition to cancer have been analyzed and identified; this has allowed us to have more information about genetic trends and to expand the development of techniques for the study and categorization of mutations.
What is the importance of identifying hereditary cancer?
Identifying families with a high probability of inheriting some type of cancer or hereditary syndrome allows its members to make conscious decisions regarding their health, improve their daily habits and undergo early detection tests before neoplasms have a considerable growth.
A predisposition to hereditary cancer can be recognized when in the same family there are several members with cancer (generally of the same type), which come from past generations and continue to appear in future generations. Hereditary cancers tend to develop at an earlier age than those that occur sporadically.
Characteristics of hereditary cancer
- Tumor development at early ages.
- Multiple family members suffer from the exact same cancer.
- It occurs in several generations over the years.
- The disease is generated bilaterally, i.e. on both sides of the paired organs with cancer (both breasts, kidneys, lungs...).
- One or more primary tumors have been detected within the family nucleus.
- It can trigger the appearance of rare tumors in one or more of its members.
Main hereditary syndromes due to genetic mutations
Hereditary syndrome of breast and ovarian cancer
There are families in which several female members suffer from breast or ovarian cancer. Frequently, the cancer is detected at a younger age than usual; some of them may also develop more than one focus of cancer at the same time, for example: in both breasts or breast and ovarian cancer. Cases like this are known as Hereditary Breast and Ovarian Cancer Syndrome (HBOC).
Both this syndrome and the appearance of breast cancer, ovarian cancer, fallopian tube cancer, prostate cancer and many others, are attributed to the BRCA gene mutation, especially BRCA1 and BRCA2.
Lynch syndrome
The presence of Lynch syndrome increases the probability of developing colon cancer, appearing regularly in people under 50 years of age. This hereditary syndrome also increases the risk of developing cancer of the endometrium, ovary, pancreas, stomach, kidney, etc. Lynch syndrome can derive from any of the MMR genetic mutations and others such as: MLH1, MSH2, MSH6, PMS1, PMS2...
Li-Fraumeni syndrome
This hereditary syndrome triggers tumors in multiple parts of the human body at an early age. It can lead to different types of cancers and sarcomas (osteosarcomas, leukemia, brain tumors, white tissue sarcomas, among others). Li-Fraumeni syndrome is associated with alterations in the TP53 or CHEK2 genes.
Currently, people with a strong hereditary history can undergo genetic testing (by blood or saliva) to discover their genetic makeup; this being the first step to take timely action on any mutations found.
It should be noted that genetic testing does not apply to all cases, so specialized medical advice is recommended beforehand.
