What is Germline Cancer?Germline cancer or germline mutation is a mutation (alteration in genes that causes cancer) that occurs in the germ cells (eggs and sperms). This cancer leading mutation can occur either in a sperm or egg of a parent and can directly transfer to a child during conception (fertilization/the action of conceiving a child). Certain cancers are hereditary like hereditary breast and cancer ovarian cancer syndrome (HBOC), Colon (large intestine), and endometrial ( uterus lining) cancer.
Disease Etiology (Cause)Germline cancer occurs due to a hereditary mutation in the sperm or egg. The cause behind the germline cancer is a mutation in the TP53 and BRCA1 and BRCA2. This mutation can occur due to oxidative stress or due to exposure to certain harmful substances like exposure to ionizing radiation and chemicals. People having inherited germline mutations in TP53 are inclined to certain cancer because tumours are suppressed by the protein produced by this gene. Individuals with these mutations also have the possibility of developing Li – Fraumeni syndrome, hereditary breast and ovarian cancer syndrome (HBOC), Colon (large intestine), and endometrial (uterus lining) cancer.
Disease EpidemiologyGermline cancer makes about 5-10% of all cancers.
Signs and SymptomsPeople with HBOC have increased risk of developing breast cancer, ovarian cancer, abdominal cancer, pancreatic, prostate, and colon cancer. Signs and symptoms vary according to the involvement of the organ and staging of cancer. People with HBOC or BRAC1 and BRAC2 mutations have 39%-63% risk of developing ovarian cancer, 6-15% for prostate cancer, 46%-87% female breast cancer as compared to the general population.
- Molecular genetic testing for BRAC1 and BRAC2
Treatment and Prevention
- According to the National comprehensive cancer network guidelines, women who have BRAC1 and 2 should consider Preventive and curative treatment of prophylactic bilateral mastectomy (surgical removal of both sided breast tissue) and prophylactic oophorectomy (surgical removal of both sided ovaries and fallopian tubes).
- Periodic self- breast examination and awareness about preventive measures of HBOC are also helpful in the prevention and early diagnosing of HBOC.