Prostate cancer-related genes
Below is a detailed explanation of the specified genes ( ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53 ). Many of these genes are related to DNA repair and tumor suppression , and are particularly involved in the risk of developing breast cancer, ovarian cancer, prostate cancer, colon cancer, and endometrial cancer.
1. ATM (Ataxia-Telangiectasia Mutated)
- Role : ATM is a tumor suppressor gene that promotes the repair of DNA double strand breaks and plays a role in regulating the cell cycle. Upon DNA damage, ATM arrests the cell cycle and prevents cell division until repair is completed.
- Associated cancers : Breast, prostate, and pancreatic cancer. ATM mutations impair the ability to repair DNA and increase the risk of these cancers.
2. BRCA1 (Breast Cancer 1)
- Role : BRCA1 plays a key role in DNA repair, specifically repairing DNA double-strand breaks through homologous recombinational repair (HRR) , and is also involved in regulating the cell cycle and promoting apoptosis.
- Associated cancers : Breast, ovarian, and prostate cancer. Mutations in BRCA1 greatly increase the risk of developing these cancers.
3. BRCA2 (Breast Cancer 2)
- Role : Like BRCA1, BRCA2 is responsible for homologous recombination repair of DNA and has the function of accurately repairing DNA damage.
- Associated cancers : breast, ovarian, prostate, pancreatic. Mutations in BRCA2 significantly increase the risk of breast and ovarian cancers.
4.CHEK2 (Checkpoint Kinase 2)
- Role : CHEK2 arrests the cell cycle when DNA damage is detected and delays division until repair is completed, an important mechanism for cancer suppression.
- Associated cancers : Breast, prostate, and colon cancer. Mutations in CHEK2 cause imperfect DNA repair and increase cancer risk.
5. EPCAM (Epithelial Cell Adhesion Molecule)
- Role : EPCAM promotes cell-cell adhesion and aids in cell-cell communication. Mutations in EPCAM indirectly downregulate MLH1 expression and affect the mismatch repair (MMR) system.
- Associated Cancers : Associated with Lynch syndrome , there is an increased risk of cancer, particularly colon and endometrial cancer. Mutations in EPCAM cause defective MMR and increase the risk of cancer development.
6. HOXB13 (Homeobox B13)
- Role : HOXB13 is a gene involved in prostate development and differentiation and acts as a transcription factor, specifically in the development and function of prostate cells.
- Associated Cancers : Associated with the risk of prostate cancer . Mutations in HOXB13 significantly increase the risk of developing prostate cancer.
7. MLH1 (MutL Homolog 1)
- ROLE : MLH1 plays a key role in the DNA mismatch repair (MMR) system, correcting errors made during DNA replication, thereby maintaining DNA stability and preventing the development of cancer.
- Associated Cancers : Associated with Lynch syndrome , there is an increased risk of cancer, especially colon and endometrial cancer. Mutations in MLH1 cause defective MMR and increase cancer risk.
8. MSH2 (MutS Homolog 2)
- Role : MSH2 also participates in the mismatch repair system, working with MLH1 to correct errors during DNA replication.
- Associated Cancers : Associated with Lynch syndrome , there is an increased risk of cancer, especially colon and endometrial cancer. Mutations in MSH2 cause defects in DNA repair and increase cancer risk.
9. MSH6
- Role : MSH6, together with MSH2, is involved in DNA mismatch repair, detecting and correcting errors during DNA replication.
- Associated Cancers : Associated with Lynch syndrome , there is an increased risk of colon and endometrial cancer. Mutations in MSH6 cause mismatch repair dysfunction and increase the risk of cancer.
10. NBN (Nibrin)
- Role : NBN is involved in the repair of DNA double-strand breaks and plays an important role in maintaining cellular genomic stability.
- Associated cancers : Breast cancer, lymphoma. Mutations in NBN cause defects in DNA repair and increase the risk of cancer.
11. PALB2 (Partner and Localizer of BRCA2)
- ROLE : PALB2 cooperates with BRCA2 in DNA repair and is involved in homologous recombinational repair (HRR) , playing an important role in DNA damage repair.
- Associated cancers : breast cancer, pancreatic cancer. PALB2 mutations reduce the function of BRCA2 and increase cancer risk.
12. PMS2 (Postmeiotic Segregation Increased 2)
- ROLE : PMS2 cooperates with MLH1 and MSH2 to correct DNA damage in the mismatch repair system.
- Associated Cancers : Associated with Lynch syndrome , there is an increased risk of cancer, especially colon and endometrial cancer. Mutations in PMS2 cause mismatch repair defects and increase cancer risk.
13. PTEN (Phosphatase and Tensin Homolog)
- Role : PTEN is an important tumor suppressor gene that inhibits cell growth and proliferation , regulating cell survival signals and preventing abnormal cell proliferation.
- Associated cancers : Breast, endometrial, and thyroid cancer. Mutations in PTEN significantly increase the risk of cancer by causing uncontrolled cell growth, particularly in Cowden syndrome .
14. RAD51D (RAD51 Homolog D)
- Role : RAD51D is involved in DNA repair.
It plays an especially important role in homologous recombinational repair, helping to repair DNA damage when it occurs.
- Associated cancers : breast cancer, ovarian cancer. Mutations in RAD51D lead to defective DNA repair and increased cancer risk.
15. TP53 (Tumor Protein 53)
- Role : TP53 is a tumor suppressor gene that acts as the guardian of the genome by detecting DNA damage and promoting repair, or inducing apoptosis if repair is not possible, thereby preventing cancer development.
- Associated Cancers : Many types of cancer (breast, lung, colon, leukemia, brain tumors, etc.). Mutations in TP53 significantly increase the risk of almost all types of cancer and are particularly associated with an inherited cancer syndrome known as Li-Fraumeni syndrome .
summary
These genes play important roles in DNA repair and tumor suppression and are associated with the risk of breast, ovarian, prostate, colon, and other cancers, among others. Mutations in these genes significantly increase the risk of developing cancer, so genetic testing and preventive testing may be recommended.