Some genes in the human body are highly related to cancer. When these genes mutate, cancer may occur. Two years ago, because of the "Angelina Jolie effect", Hollywood actresses had BRCA 1 gene mutation. They first removed * * *, and then removed their ovaries and fallopian tubes to reduce their risk of cancer, which triggered the upsurge of cancer gene testing.
BRCA gene mutation test
Normal BRCA is one of tumor suppressor genes, but if the gene mutates, it is easy to cause breast cancer and ovarian cancer. The risk of breast cancer in the future is about 60-70%, while the risk of ovarian cancer in BRCA 1 is about 40-45%, and that in BRCA2 is 15-20%. Therefore, the United States Preventive Services Working Group (USPSTF) appeals to patients in high-risk groups for genetic testing and counseling, including: if someone in the family has breast cancer, ovarian cancer, tubal cancer, abdominal mass or carries BRCA 1 and BRCA2 genes. The detection of tumor gene mutation in gynecological tumor patients in our hospital found that about 20% patients had BRCA gene mutation.
Homologous recombination defect test.
Homologous recombination repair (HRR gene) is an important gene involved in DNA repair in human body, which can help maintain the stable growth of cells. BRCA· Jean is a member of HRR. If this repair system is missing, it will lead to the abnormality or instability of the genome, and the probability of cancer will be greatly improved. Studies have shown that about 40-50% of patients with highly differentiated serous ovarian cancer have homologous recombination repair deletion (HRD), of which more than half are BRCA 1/2 gene mutations, and the rest are very similar to the former, so the clinical treatment strategy is the same.