Germline Cancer – Symptoms, Treatment & Support

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 Epidemiology

Germline cancer makes about 5-10% of all cancers.

Signs and Symptoms

 People 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.

Diagnosis 

• 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.

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What Support can we Give for Germline Cancer?

Germline Cancer is rare cancer, meaning it is not as well known as other forms of cancer. Without a Ribbon is an Australian organisation that provides support for individuals who suffer from rare cancers. So, we provide a designated platform for Warriors to obtain information specific to their Rare Cancer. We also provide annual opportunities for our Warriors to meet and learn from each other. If you suffer from rare cancer such as Germline Cancer, we can help and support you through your journey thanks to the generous donations we receive. Click the link below to sign up and become a Warrior today!

You can help us with your donation:

Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways: Donations — Without a Ribbon is grateful when we receive every donation. Giving to Without a Ribbon helps us to provide ongoing support, organise the annual gathering and subsidise the costs of our Warriors attending these conferences. Sponsorship — If you wish to sponsor our charity, please contact us using this form. Volunteering — We are always looking for volunteers to help with different aspects of running our charity. So, if you are looking for volunteer work, please feel free to contact us.