Genes are the most basic units of heredity. They are segments of DNA molecules that have a definite genetic function. Each of our genes comes in two copies, one from the father and one from the mother. Each gene contains genetic information that codes for bodily functions/activities, from an individual’s developmental predisposition to disease predisposition. This includes a tendency to develop cancer.
Therefore, performing genetic testing will help assess whether an individual’s risk of hereditary cancers is high or low so that effective intervention and prevention can be directed.
All cancers are caused by genetic mutations. Cancer cells are mutant versions of normal cells. There are two types of genetic mutations, acquired or inherited, in which:
- Acquired Mutations: Common, occurring due to genetic mutations during life. Only a few organs and parts carry mutated cells, and these not being passed on to the next generation.
- Inherited Mutations: Less commonly, genetic mutations originate from sperm or egg cells, which emerge from within the embryo and replicate throughout the body’s cells. This type of mutation is passed on to the next generation.
Carrying a genetic mutation can put a person at higher risk of certain types of cancer. Therefore, screening for inherited cancer risk (determining whether you carry a gene mutation that increases your risk of cancer) has two values:
- Negative result: Helps rule out the risk of developing cancer due to having a genetic mutation
- Positive results: Help prevent and reduce risk, develop a more proactive and effective cancer screening plan
Helping to screen cancer effectively is: choosing the right time to start screening plus the right screening method to detect cancer at an early stage. This helps in early detection and intervention, a more than 90% effective cancer treatment.
For example:
|
Right time |
Right method |
| Breast cancer |
Positive: Early screening at age 25 |
Positive: MRI every year |
| Negative: Screened at age 40 |
Negative: Mammogram every year |
| Colorectal cancer |
Positive: Early screening at age 20 |
Positive: Endoscopy every year |
| Negative: Screening from age 50 |
Negative: Endoscopy every 10 years |
According to statistics, only 5–10% of cancers are inherited. The remaining 90% are acquired—i.e. due to environmental and lifestyle influences. Hereditary cancer accounts for a low rate, but often starts early and leaves serious consequences if detected late. In particular, inherited cancers can be passed from generation to generation. Notably, people with genetic mutations are 10–40 times more likely to develop cancer than the general population.
The main differences between inherited and acquired cancers are as follows:
| HEREDITARY CANCER |
ACQUIRED CANCER |
| Genetic mutations are available and inherited from previous generations |
Gene mutations arise over time |
| Can be passed on to the next generation |
Not passed on to the next generation |
| Can be detected very early, even if there are no symptoms of the disease |
Difficult to detect early until there are obvious external signs or metastasis to other organs |
| Mutations occur throughout the body |
Mutations occur only in tumor cells or a few organs |
Gene testing helps assess risk, thereby providing the most effective screening strategy: When to screen—What screening method should be used to detect cancer at an early stage for 90% effective treatment.
Biochemical tests as well as imaging are the next steps for screening.
Cancer screening that is not guided by genetic screening can lead to late detection of cancer or be costly and unnecessary.
The detection of cancer genes means proactive prevention and early screening of the disease. If a person is found to have a genetic mutation (which causes cancer), it will show that person is at risk of developing cancer. If a person carries a disease-causing mutation, that person has a much higher risk of developing the disease than a normal person who is not a carrier.
Knowing this risk in advance helps gene carriers optimize periodic cancer screening to detect early when cancer cells form and apply proactive preventive measures to minimize the likelihood of developing the disease.
Liver cancer mainly occurs due to acquired causes (infection, alcohol), so there is no recommendation to screen for hereditary risk of liver cancer.
If someone in the family has cancer, you should undergo genetic testing. This is because cancer can be caused by environmental factors, lifestyle and genetic factors. You need to do genetic testing to accurately assess your risk, so that you can have the most effective screening plan.
Genes are just one of three basic factors that affect human health. In addition to genes (heredity), the development of cancer in each individual is also the result of the interaction of two other factors, which are habit/lifestyle (diet, exercise, etc.) and living environment (air, water, stress, etc.).
If the test result is negative, you can still get cancer due to environmental and lifestyle factors. However, the risk of cancer in the general population is usually low. In particular, people with genetic mutations will have a 10 to 40 times higher chance of getting cancer.
There is only one case where genetic testing is not required: If both parents have negative results, they do not need to do it for their children.
You are suffering from cancer and your gene test results are completely normal. That shows that the cause of your cancer is not due to genetic factors, but to the other two factors, which are environment and lifestyle.
However, this cannot confirm with certainty that your family members are not at risk of genetic cancer. Therefore, your family members should still actively screen for cancer risk due to genetic factors if they so desire.
Genetic testing cannot predict whether or not a patient will relapse. However, if the patient has early cancer (less than 45 years old), the ONCOSURE test should be performed to determine whether there is a genetic mutation that causes the disease, assisting in the screening of family members.
The detection of cancer genes means proactive disease prevention and early detection. If a person is found to have a cancer-causing gene mutation, that person is at risk of developing cancer. A person who carries a disease-causing mutation is considerably more likely to get the disease than an ordinary individual who does not have the mutation. Knowing this risk beforehand allows patients to maximize routine cancer screening to detect cancer cells early and take proactive preventative steps to minimize the probability of disease development.
As recommended by the US National Institutes of Health, individuals with a personal or familial history of chronic diseases with possible genetic causes (such as hereditary cardiovascular disease) and those with anxiety and concern regarding genetic health should undergo genetic testing to screen for hereditary chronic diseases. Your case meets the criteria outlined in the recommendation, so GenCare Premium should be performed.
Individuals with familial hypercholesterolemia have a threefold higher risk of stroke and myocardial infarction than the general population, with most strokes occurring before the age of 50–60. Familial hypercholesterolemia requires an intensive treatment approach with a low lipid-lowering endpoint and a different therapeutic approach combining multiple therapies. Early identification of familial hypercholesterolemia allows patients and doctors to select appropriate treatment regimens, reducing complications and improving treatment success.
MenCare testing should be performed as soon as possible, regardless of age.
A personal history of bowel cancer should surely warrant testing. If you have a benign tumor and are concerned, you should undergo genetic testing to evaluate your cancer risk.
If you have a family history of cancer, genetic testing is the best approach to determine your exact risk of carrying a genetic mutation that causes the disease. As a result, the doctor will recommend a plan for each patient’s monitoring, screening, prevention, and possibly early treatment.
The causes, onset, and severity of hereditary cancers differ from common ones. Hereditary cancer treatment differs from standard cancer treatment (depending on the extent of the patient’s condition).
You only need to do it once in your lifetime.
PinkCare assists in identifying a genetic high risk of cancer, thereby:
- Increasing compliance with screening.
- More routine visits are needed to detect disease symptoms as early as possible.
- Evaluate the disease risk for family members (about 50 percent)
It can be done at any age.
If PinkCare is positive, there are numerous monitoring and screening options available. Mastectomy is just one of the options. Gene Solutions has a team of oncologists who will advise you on the plan and how to prevent the disease if a positive result is found.
You have a 10% chance of inheriting breast cancer from your mother. This rate increases if your mother was diagnosed with breast cancer before the age of 50. PinkCare assists in determining whether a genetic factor is passed down from your mother to you.
- Identifying genetic carriers supports the development of a proactive prevention and monitoring plan.
- Reduce the likelihood of developing the disease and detect cancer in its earliest stages.
- Early cancer detection enables effective treatment, up to 98.7 percent
- Assist in identifying family members at similar risk for prevention purposes.
When a family member has early coronary/cardiovascular disease, genetic factors should be considered (e.g., father less than 55 years old, mother less than 60 years old). In addition, fatty deposits (xanthomas) in the skin, muscle tendons, irises, and elevated cholesterol levels (LDL-C above 190 mg/dl in adults and LDC-C above 160 mg/dl in children) are clinical indicators of a genetic cause when a member of the family is diagnosed with the disease.
Hereditary dyslipidemia is caused by a dominant mutation in one of three genes involved in LDL metabolism (LDLR gene, PCSK gene, and APOB gene), resulting in loss of function of the gene that reduces LDL-C clearance from plasma and significantly elevated LDL-C concentrations in the blood from birth. If one parent carries the disease-causing mutation, the child has a 50% chance of developing the disease. Furthermore, patients may have normal hyperlipidemia due to lifestyle factors (high-fat diet, inactivity, stress), obesity, age, or other diseases.
This is a once-in-a-lifetime genetic test and is enough for diagnosing hypercholesterolemia due to genetic causes. If the results are positive, the mutation carrier will be monitored with an individual treatment plan, during which the LDL-C level in the blood must be monitored periodically to achieve the treatment goal. Therefore, genetic testing does not replace routine blood tests.
It is not recommended because it is inappropriate for patients and wastes time and money on ineffective treatment regimens. Scientific studies have shown that people with genetic mutations (familial hypercholesterolemia) are classified as high-risk and very high-risk groups, with a threefold increase in the risk of coronary heart disease and death compared to the general population (despite having the same blood LDL-C). These two diseases have different danger thresholds and treatment strategies, but they are easily confused or ignored, resulting in treatment of the incorrect target and drug dosage, leading to unwanted complications for the patients.
