In many families, the risk of developing cancer appears to be higher than in others, often because of a hereditary cancer syndrome. These syndromes are inherited diseases due to gene mutations that make affected individuals more susceptible to developing a variety of cancers, in some cases at a young age. According to research, hereditary cancer syndromes account for approximately 5% to 10% of all cancers and not only increase the likelihood of cancer occurrence but may also result in multiple independent primary tumors.
Inherited cancer syndromes often occur due to mutations in tumor suppressor genes, which are responsible for protecting cells from becoming cancerous.
Currently, the scientific community has identified more than 50 identifiable inherited cancer syndromes, the most common of which include hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colorectal cancer (Lynch syndrome). Most of these syndromes are inherited in a Mendelian autodominant manner, meaning that only one pair of abnormal alleles is sufficient to put an individual at risk for the disease.
For example, hereditary breast-ovarian cancer syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes, which are related to the maintenance and repair of DNA. Mutations lead to genomic instability in cells and increase the risk of cancer.
The risk of these syndromes varies with the specific condition. For example, Fabenny's anemia syndrome can lead to early onset of several cancers, while familial adenomatous polyposis greatly increases the risk of colorectal cancer. These patients often develop multiple tumors in a short period of time, and the medical community calls for regular screening to detect and prevent the development of cancer early.
The role of DNA repair defectsMany cancer syndromes are caused by inherited defects in DNA repair capabilities. When mutations exist in DNA repair genes, this can lead to deficiencies in repair function, causing DNA damage to accumulate and ultimately leading to the formation of cancer.
According to research, Xeroderma pigmentosum patients' UV light sensitivity puts them at more than 10,000 times the risk of skin cancer.
If you have a family history of the disease, genetic screening is a wise choice. This not only identifies mutated genes, but also allows individuals to better understand their risk for cancer and take preventive measures. These preventive measures include: regular exercise, maintaining a healthy diet, and being careful when in the sun.
For women who detect a BRCA mutation, regular breast screening and consideration of preventive surgery, such as a mastectomy, are considered important ways to reduce cancer risk.
Genetic mutations are more common in certain populations because their ancestry can be traced back to a certain geographic location and the mutations are passed down through the generations. For example, among Assyrian Jews, the rate of BRCA mutations is many times that of the general population. This makes the risk of cancer more pronounced for certain ethnic groups.
Inherited cancer syndromes not only reveal some obvious causes of cancer, but more importantly, they teach us to pay attention to the power of family inheritance. This knowledge can not only fight cancer, but also educate everyone to make smarter health choices. And for you, to what extent can knowing your genetic background affect your health decisions?