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How do gene mutations affect your health? Uncovering the mystery of hereditary cancer!
There are many secrets in our genes that affect our health. Hereditary cancer syndromes are due to mutations in specific genes that not only increase an individual's risk of developing cancer but may also lead to the development of multiple primary tumors. Current scientific research indicates that these genetic diseases account for approximately 5% to 10% of all cancer incidents. With the advancement of genetic testing technology, more cancer susceptibility syndromes are gradually emerging.
"When genetic factors intersect with environmental factors, gene mutations can act as catalysts, promoting the development of cancer."
Types of Hereditary Cancer Syndromes
Hereditary cancer syndromes cover a wide range of different cancers, some of the best known being hereditary breast-ovarian cancer syndrome (BRCA mutations) and hereditary non-polyposis colorectal cancer (Lynch syndrome). Characteristics of these syndromes include:
- Significantly increases lifetime risk of developing related cancers
- Increased likelihood of early-onset tumors
- Risk of developing multiple independent primary tumors
The role of genes
Every cell has two copies of a gene, one of which is called an allele. Most cancer syndromes are inherited in an autosomal dominant manner, meaning that an individual only needs to possess one defective allele to be susceptible to cancer. According to Knudson's double mutation hypothesis, the first mutation comes from an inherited gene, while the second mutation usually arises sometime later in life, which leads to the development of cancer.
Examples of Hereditary Cancer Syndromes"The impact of a genetic mutation is not just in its consequences, but also in how it changes over time during an individual's life."
Hereditary Breast-Ovarian Cancer Syndrome
The syndrome is caused by mutations in the BRCA1 and BRCA2 genes and significantly increases a woman's risk of developing breast and ovarian cancer. In men, it increases the risk of prostate cancer. According to statistics, mutations in these two genes cause approximately 80% of breast cancer cases.
Hereditary nonpolyposis colon cancer (Lynch syndrome)
The syndrome is primarily caused by mutations in DNA mismatch repair genes, which increase the risk of colon cancer at a young age. In addition, the risk of other cancers also increases, such as endometrial cancer and gastric cancer.
"The emergence of genetic testing provides new ideas for early detection and personalized treatment."
Genetic Testing and Preventive Measures
Genetic testing can help identify your risk of carrying a specific mutation and provide greater insight into the health of your family members. Medical professionals can provide necessary testing recommendations based on a person's family medical history. If the test result is positive, the patient can reduce his or her cancer risk through lifestyle improvements such as regular exercise, healthy eating, and avoiding smoking.
Epidemiology of gene mutations in different ethnic groups
Studies have shown that certain ethnic groups are more susceptible to specific gene mutations. For example, the proportion of BRCA mutations among Ashkenazi Jews is as high as 1/40, while the proportion in the general American population is only 1/400.
As our understanding of inherited cancer syndromes grows, scientists are exploring how to use this knowledge to improve health awareness and early screening. Has this made you start thinking about your own and your family’s genetic legacy of health?
