BRCA2 Gene Mutation in Males: Effects, Risks and Solutions

Genetic mutations are commonplace in living organisms, and the implications played by such mutations could range from benign to deadly, depending on the affected gene or genes. The BRCA2 gene is no exception, as it has been linked to various forms of breast and ovarian cancers in both sexes. Indeed, mutations in the BRCA2 gene could increase one’s risk of developing breast, ovarian, prostate and pancreatic cancers considerably.

However, this article focuses primarily on BRCA2 gene mutations in males. We will cover the effects, risks, and solutions to BRCA2 gene mutation in males in this article.

What is the BRCA2 gene?

Firstly, let’s take a quick look at the BRCA2 gene. The BRCA2 gene is located on chromosome 13, a structure found independently in each cell’s nucleus that carries genetic material or DNA. The gene codes for the BRCA2 protein, which plays a crucial role in regulating cell growth and DNA repair.

BRCA2 protein helps in repairing DNA damages that result from genetic or environmental causes such as ultraviolet radiation, cigarette smoke, toxins, and other factors. The protein does this by binding to other proteins involved in DNA repair processes, ensuring that any broken or damaged sequence of DNA is either repaired or replaced.

When a mutation occurs in the BRCA2 gene, the resulting BRCA2 protein cannot function effectively in regulating cell growth or repairing damaged DNA. This disruption could eventually lead to the development of some cancers if the mutation occurs in certain critical regions of the gene.

Effects of BRCA2 Gene Mutation in Males

It is a well-known fact that females who have mutations in the BRCA2 gene have an increased risk for developing breast and ovarian cancers. However, that does not preclude the fact that BRCA2 gene mutation in males could be equally dangerous.

Males with BRCA2 gene mutations are at a higher risk of developing male breast cancer, prostate cancer, and pancreatic cancer. They also develop cancers at a younger age, generally between 50-70 years, than individuals with normal BRCA2 gene status.

Male Breast Cancer

Male breast cancer is relatively rare, accounting for less than 1% of all cancer diagnoses in men. However, men with BRCA2 gene mutations have a 5-10% increased risk of developing breast cancer in their lifetime.

Breast cancer in males manifests as a hard lump in the breast and is usually found through a self-examination process or a medical investigation such as ultrasound. Other symptoms include nipple discharge or inverted nipple, breast pain, and swelling, changes in breast skin color or texture.

Prostate Cancer

Prostate cancer is another common type of cancer that has been linked to the BRCA2 gene mutation in males. Men with a BRCA2 gene mutation have an estimated two to four times higher risk of prostate cancer than the general population, and the cancer tends to be more aggressive. Studies have also shown that prostate cancer linked to BRCA2 gene mutation in males is more difficult to treat.

Pancreatic Cancer

Pancreatic cancer is another type of cancer that has been linked to BRCA2 gene mutations. Individuals with BRCA2 gene mutations have up to a fourfold increase in pancreatic cancer’s incidence compared to the general population. Pancreatic cancer grows relatively faster in people with BRCA2 gene mutation and tends to be more aggressive than in individuals with normal BRCA2 gene status.

Risks Associated with BRCA2 Gene Mutation in Males

BRCA2 gene mutations follow an autosomal dominant inheritance pattern, meaning that an affected person has a 50% chance of passing the mutated gene to their offspring. With that being said, males with BRCA2 gene mutations have a considerable risk of developing cancers in their lifetime.

The specific cancer risks associated with BRCA2 gene mutation vary depending on age, lifestyle, medical history, and other genetic factors. However, the following risks have been noted in the male population:

– 5-10% risk of developing breast cancer
– 11-18% risk of developing prostate cancer
– 1-4% risk of developing pancreatic cancer
– Increased risk of developing melanoma skin cancer and certain types of lymphoma and leukemia.

Prevention and Solutions for BRCA2 Gene Mutation in Males

Although there is no guaranteed solution for the prevention of mutations in the BRCA2 gene, the following strategies and preventative measures have proved effective in managing cancers.

Surveillance

Individuals with a BRCA2 gene mutation are advised to undergo regular screening and surveillance to help catch any cancers at their early stages. Men with BRCA2 gene mutations should undergo mammography and clinical breast examination annually, starting at age 35. They should also undergo a prostate-specific antigen (PSA) blood test annually starting at age 30 to determine their prostate cancer risk. Annual abdominal ultrasounds, starting between ages 25-30, are also recommended.

Prophylactic Surgery

Prophylactic surgical procedures, such as mastectomy, which involves the removal of the breast to prevent breast cancer, have been proven effective in mitigating cancer risks. Prophylactic pancreatic removal has also been suggested to reduce the incidence of pancreatic cancer in individuals with BRCA2 gene mutation.

Drug Therapy

Certain drugs such as Tamoxifen have been shown to reduce the risk of developing breast cancer in individuals with BRCA2 gene mutations. Other drug options such as Olaparib have also been approved in the treatment of advanced cancer and have shown promise in cases of BRCA2 gene mutation.

Lifestyle Changes

An overall healthy lifestyle is always advisable for anyone. In the case of BRCA2 gene mutation carriers, smoking cessation, healthy eating practices, and regular exercise have also proved effective in cancer prevention and management.

bcl-2 gene mutation | Important Points

Conclusion

BRCA2 gene mutation in males has been linked to various cancers such as breast, prostate, and pancreatic cancer. Understanding the implications of BRCA2 gene mutations is crucial, particularly for individuals who possess this mutation to take the necessary preventative measures and steps to manage their potential cancer risks.

Surveillance, prophylactic surgery, drug therapy, and lifestyle changes are some of the measures that can help manage and prevent cancer risks in individuals with BRCA2 gene mutation. As research and medical advancements continue, it is hoped that better preventative and treatment options will emerge to mitigate the risks or manage cancers associated with BRCA2 gene mutations.