Everyone is at risk of developing cancer throughout his life, but in most cases, cancer occurs accidentally. However, some people are genetically inclined to develop certain types of cancer, such as breast cancer or colorectal cancer, etc. This is often because they have inherited specific cancer risk genes from their parents.
Genetic testing can identify those genetic mutations that can be inherited, which can help individualize cancer treatment, improve patient survival, prevent cancers in immediate family members in advance, and promote the development of precision medicine.
In October 2020, JAMA Oncology published a research paper titled Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome from Mayo Clinic, which is ranked number one in the world.
The research team conducted genetic testing on 2984 confirmed cancer patients. The test results showed that more than one-eighth (397 people, 13.3%) of cancer patients had heritable genetic mutations related to cancer.
These cancers cover a variety of cancer stages and types, including breast cancer, colorectal cancer, lung cancer, ovarian cancer, pancreatic cancer, bladder cancer, prostate cancer, and endometrial cancer.
The researchers were surprised to find that doctors used standard cancer diagnosis and treatment guidelines to determine which cancer patients should receive genetic testing, and only 48% of cancer patients with heritable genetic mutations were found.
In other words, more than half of cancer patients with heritable genetic mutations cannot be found through standard cancer diagnosis and treatment guidelines. Of the 2984 diagnosed with cancer, 397 were found to have at least one heritable genetic mutation related to cancer, and the 6 most common types are:
BRCA1 and BRCA2 mutations, a total of 66 people, accounting for 2.2%, cause breast cancer in women
MUTYH mutation, a total of 50 people, accounting for 1.7%, is related to the risk of colorectal cancer
CHEK2 mutations, a total of 47 people, accounting for 1.6%, are related to the risk of breast cancer, ovarian cancer, prostate cancer and other cancers
ATM mutations, a total of 31 people, accounting for 1.0%, are related to breast cancer, pancreatic cancer and other cancer risks
Mismatch repair gene mutations (including MLH1, MSH6, MSH2, MSH3, PMS2), a total of 29 people, accounting for 1.0 %, leading to Lynch syndrome, which is related to the risk of colorectal cancer
Gene mutations can lead to abnormal gene function and even cell cancerous transformation. Although many oncogene mutations occur accidentally in a single cell, this study shows that more than one-eighth of cancer patients with oncogene mutations are heritable mutations, these mutations trigger a series of events that may cause cancer
The discovery of these hidden heritable genetic mutations will help the family to manage cancer, and targeted cancer treatment to save lives.
In general, the Mayo Clinic's large-scale genetic test for cancer patients shows that more than one in eight cancer patients’ oncogene mutations are heritable, which means their children, siblings and other relatives may also carry these oncogene mutations.
What's more, the study found that if standard cancer diagnosis and treatment guidelines are followed, more than half of cancer patients will not be found to carry heritable genetic mutations.
In addition, the study also showed that 28% of cancer patients were found oncogene mutations after undergoing genetic testing, and their treatment plans would be adjusted accordingly.
The research team said that for cancer patients and their families, the popularizing rate of genetic testing is not enough. This is usually due to the outdated diagnosis and treatment guidelines restricting genetic testing to a small number of high-risk patients. In fact, all cancer patients should be arranged genetic testing. Obtain complete genetic information, which can not only guide the treatment plan for patients, but also determine whether their family members have related cancer risks, so as to develop corresponding cancer prevention strategies for their families.
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Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome