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What is hereditary cancer?

Cancer occurs in two ways, one is caused by acquired factors (somatic mutation), and the other is caused by congenital genetic factors (germline mutation); cancers caused by congenital genetic factors are called hereditary cancers. For example, in a family, if cancer has occurred in several consecutive generations, it is likely to be hereditary cancer.

What is the relationship between hereditary cancer and genes?

Cancer is "genetic disease". The occurrence and development of cancer are related to abnormal changes in genes. People who are born with abnormal/defective genes are more likely to suffer from hereditary cancer.

How often should genetic testing for hereditary cancer be done?

Genetic variants associated with hereditary cancers are congenital (germline mutations), so genetic testing for hereditary cancers is a test that lasts a lifetime. With the continuous development of scientific research, after more hereditary cancer susceptibility genes are discovered in the future, they can be tested again to obtain more information.

Who should be tested for hereditary cancer?

Cancer patients, especially those whose cancer is diagnosed at unusually young age, or those whose cancer occurs on both sides of a paired organ, such as both kidneys and breast.

People with a family history of cancer, especially multiple close relatives have the same type of cancer (eg, mother, daughter, sister with breast cancer).

Patients with birth defects associated with inherited cancer syndromes, such as benign skin abnormalities or bone deformities.

If a patient has a defect in hereditary cancer susceptibility gene, will he/she definitely get cancer?

Being diagnosed with inherited cancer gene defect does not necessarily lead to cancer, but the risk is higher than in people with normal genes.

Why doesn't the hereditary cancer test check for liver and lung cancer?

At present, the research on the genetic factors of liver cancer and lung cancer is not very clear, and it is more likely to be related to living habits and environmental factors. It is not ruled out that new disease-causing genes will be discovered with the development of research.

What are cancer driver genes?

Important genes that regulate cell growth have undergone abnormal changes, such as mutation, amplification, rearrangement, etc., thus leading to the activation of proto-oncogenes or the inactivation of tumor suppressor genes. 

What are common cancer driver genes?

The driver genes of different cancers are not necessarily the same. Taking non-small cell lung cancer as an example, its common driver genes are EGFR, ALK, HER2, MET, RET, ROS1, BRAF and KRAS.

Why do different people react differently to drugs?

Factors such as genes, age, gender, weight, health status, liver and kidney functions can all affect an individual's response to drugs. However, a large number of studies have shown that genetic polymorphisms, that is, differences in genes, play a decisive role.

As far as drug metabolism is concerned, because different people's genes are different, each person's metabolism rate of drugs is different. For the same drug, fast metabolizers may fail to absorb the active ingredients of the drug in a timely manner, resulting in poor treatment effect; while slow metabolizers may have serious adverse drug effects due to drug accumulation in the body.

What is an allergic reaction to a drug? Does it count as an adverse drug reaction?

Allergic drug reaction is an adverse drug reaction. Drug is a "foreign object" to human beings, and the human body is born with the ability to respond to "foreign object", which is originally a kind of self-protection ability of the body. However, if this reaction exceeds a certain limit, it will cause harm to the body; allergic reaction is an out-of-limit reaction of the body to a drug, which is essentially a type of immune response.

Can I choose a drug by myself based on the test report?

Pharmacogenomic test report can be used for clinical reference, but cannot be used as clinical diagnosis opinions. It is recommended to use drugs under the guidance of doctors or pharmacists. This is because although genes have an important impact on the efficacy and adverse reactions of drugs, the actual clinical situation is much more complicated; other factors, such as the subject's age, gender, weight, health status, liver and kidney functions, pathological conditions of the disease, comorbidities, and the presence or absence of concomitant medication can all affect the results of clinical medication.

What is the best age for pharmacogenomics testing?

You can test anytime, but the sooner the better. Because the gene is the biological "identity card" of the human body, it will not change for life. The sooner subjects are detected, the sooner they can obtain individualized drug regimens, so that more effective drugs can be selected and serious adverse reactions can be avoided.

Why are cephalosporins not tested?

Because there is no reliable research published on the efficacy, side effects and drug gene correlation of cephalosporins.

Is there any discrepancy between pharmacogenomics testing and actual drug use?

This is possible. Because there are many factors that affect an individual's response to drugs, including genetic and non-genetic factors. Non-genetic factors mainly include age, gender, race, body weight, psychological state, pathophysiological state, concomitant medication, etc. Genetic factors mainly include genetic polymorphisms of drug metabolizing enzymes, drug transporters, drug targets (receptors, ion channels, etc.). Although studies have found that genetic factors are the main factor influencing individual differences in drugs, there are other factors that can influence drug response.

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