December 6, 2022

Medical Trend

Medical News and Medical Resources

JAMA: 12.5% ​​cancer patients have heritable oncogene mutations

JAMA: 12.5% ​​cancer patients have heritable oncogene mutations


JAMA: 12.5% ​​cancer patients have heritable oncogene mutations.   As we all know, cancer is caused by genetic mutations. The causes of carcinogenic gene mutations can be divided into two categories. One is acquired mutations, including aging, poor lifestyles, environmental factors, etc., and the other is genetic mutations, which are inherited from certain oncogene mutations, such as easy to cause. Mutations in the BRAC1 and BRAC2 genes of breast cancer.

Throughout life, everyone is at risk of developing cancer, 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 find 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 magazine published a research paper entitled “Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome” from Mayo Medical Center, the world’s number one.

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 undergo 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. More than half of cancer patients caused by heritable genetic mutations have been missed as carcinogenic causes, which has a major impact on their family members.

JAMA: 12.5% ​​cancer patients have heritable oncogene mutations

Of the 2984 confirmed cancer patients, 397 cancer patients have detected at least one heritable genetic mutation related to cancer, of which 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 the risk of multiple cancers such as breast cancer and pancreatic cancer;
  • Mismatch repair gene mutations (including MLH1, MSH6, MSH2, MSH3, PMS2), a total of 29 people, accounting for 1.0%, cause Lynch syndrome, which is related to the risk of colorectal cancer;


JAMA: 12.5% ​​cancer patients have heritable oncogene mutations

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 the study confirms that more than one-eight cancer patients can cause cancer-causing gene mutations. Genetic mutations, these mutations trigger a series of events that can lead to 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 Medical Center’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 It may also carry these oncogene mutations.

More importantly, 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 found oncogene mutations after undergoing genetic testing, and adjusted their treatment plans accordingly.

The research team said that for cancer patients and their families, the penetration 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 pass 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.


(source:internet, reference only)

Disclaimer of