We suggest that healthy people can start with the disease with the highest prevalence of Chinese people. If there are more members of the family with specific diseases, genetic testing should be done as early as possible for these specific diseases to achieve the desired results.
(1) For general male healthy people: It is recommended to do cancer and Familial Hypercholesterolemia (FH) disease genetic testing.
1. The current cancer gene detection mainly detects three genes of p53, K-ras and APC.
- A. Cancer gene basis test (p53 gene + K-ras):
Tumor protein p53, also known as p53, is any isoform of a protein encoded by homologous genes in various organisms , is crucial in multicellular organisms, where it prevents cancer formation, thus, functions as a tumor suppressor. As such, p53 has been described as “the guardian of the genome” because of its role in conserving stability by preventing genome mutation. Its main function is to control cell division and avoid unrestricted cell growth and DNA repair.
More than 50% of cancer p53 genes are mutated, so when the p53 gene is mutated, there is a risk of cancer, so detecting the presence or absence of p53 gene DNA can be used as a basis for assessing the risk of cancer.
K-ras is a gene that acts as an on/off switch in cell signaling. When it functions normally, it controls cell proliferation. When it is mutated, negative signaling is disrupted. Thus, cells can continuously proliferate, and often develop into cancer. Therefore, it is important to have a gene test on K-ras because it is closely related to many cancers, including lung cancer, colon cancer, pancreatic cancer, etc.
- B. Colorectal cancer gene detection:
Colorectal cancer is 3rd of all cancers and are the most common hereditary tumors in men and women. The APC gene is a tumor suppressor gene, and the APC gene mutation can be found in very early colorectal tissues. Some colorectal meat are the precursors of colorectal cancer, and those with this genetic factor have 70~ 80% of the risk move to be colorectal cancer, and the average age is between 40 and 45 years old, meanwhile, the average age of normal people with colorectal cancer is about 60 to 65 years old.
In addition, once the defective gene is present, the patient has a 50% chance of passing the abnormal gene to the next generation. Therefore, detecting the DNA of the APC gene for mutation can contribute to the risk of assessment and prevention of colorectal cancer.
2. Hereditary hyperlipidemia gene detection mainly detects two genes of LDLR or ApoB.
The Low-Density Lipoprotein (LDL) Receptor (LDL-R) is a lipoprotein receptor that plays a direct role in lipid metabolism. Patients with heart disease often have an inseparable relationship with ester metabolism, especially with plasma lipoprotein.
If the ApoB gene is mutated, it will produce ” Abetalipoproteinemia ” or ” Hypolipoproteinemia “. The former is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food; Hypolipoproteinemia is dominant family inherits, because this symptom will reduce the ability of its protein to bind to LDLR, thus leading to the occurrence of hyperlipoproteinemia.
It is currently known that 15% of heart disease patients are caused by genetic abnormalities of LDL-R or ApoB. Once ApoB is elevated, it directly reflected the number of LDL particles in blood, and LDL-R on the cell membrane plays a direct role in receptor and lipid metabolism. Therefore, ApoB or LDL-R genes are important indicators of heart disease.
(2) For female health, besides of p53, K-ras, APC, we also recommend breast cancer and ovarian cancer genes.
1. Breast cancer \ ovarian cancer genetic test:
Both BRCA1/BRCA2 are genes that inhibit cancer, and all of them are autosomal dominant and responsible for repairing DNA. Once a gene mutation occurs, it will cause breast cancer and ovarian cancer.
If women have BRCA1 and BRCA2 mutations, she has a 90% chance of getting breast cancer. Mutations in BRCA1 and BRCA2 are also associated with ovarian cancer. According to the literature report, whether there is a family history or age issue, 2 to 6% of all ovarian cancers have BRCA1 mutations, and 3 to 4% have BRCA2 mutations.