Certain genetic mutations can significantly increase the risk of developing specific types of cancer. Examples include BRCA1 and BRCA2 mutations associated with breast and ovarian cancer, and Lynch syndrome linked to colorectal and other cancers.
Cancer genetic testing is often recommended for individuals with a strong family history of cancer, especially if multiple family members have been diagnosed with the same or related cancers.
There are different types of genetic tests for cancer risk, including:
Single-gene testing: Focuses on specific genes associated with a particular cancer.
Panel testing: Examines multiple genes associated with various cancer types.
Comprehensive testing: Such as whole exome sequencing or whole genome sequencing, which analyzes the entire coding region of genes.
BRCA1 and BRCA2 gene mutations are strongly associated with an increased risk of breast and ovarian cancers, particularly in women. Testing for these mutations may be recommended for individuals with a family history of these cancers.
Lynch syndrome is a hereditary condition associated with an elevated risk of colorectal and other cancers. Genetic testing may be considered for individuals with a family history of Lynch syndrome-related cancers.
Genetic testing may also be relevant for certain other cancers, such as pancreatic cancer and prostate cancer, depending on the specific genetic mutations associated with these conditions.
Genetic counseling is an integral part of cancer risk genetic testing. Genetic counselors help individuals understand the implications of test results, discuss potential preventive measures, and provide emotional support.
Positive results from genetic testing may lead to enhanced cancer screening, risk-reducing surgeries, or other preventive measures. Negative results do not eliminate the risk of cancer but may guide appropriate screening recommendations.