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Prostate Cancer Genetic Factors: Genetic Testing & Early Detection

By Dr. Vikram Shah Batra in Urology , Kidney Transplant , Uro-Oncology

Dec 16 , 2024 | 6 min read

One of the most prevalent malignancies impacting males around the world is prostate cancer. A person's vulnerability to prostate cancer is greatly influenced by their genetic makeup, even though other risk factors also play a part in the disease's development. Knowing the genetic components of prostate cancer can aid in early detection, individualised care, and possibly even the development of preventative strategies. The importance of genetics in prostate cancer will be examined in this blog, along with the genetic mutations, family history, and new findings that have shaped our knowledge of the condition.

What is Prostate Cancer? 

Cancer that develops in the prostate is known as prostate cancer. In males, the prostate is a tiny, walnut-shaped gland that secretes the seminal fluid that feeds and carries sperm.

Many prostate cancers are limited to the prostate gland and grow slowly; thus, they might not be very harmful there. Some forms of prostate cancer, on the other hand, are aggressive and have the potential to spread swiftly, whereas others grow slowly and may require little to no treatment.

The best chance of successful therapy for prostate cancer is when it is discovered early when it is still limited to the prostate gland.

Read more - What is Prostate Cancer: Symptoms, Causes & Types

The Genetic Basis Of Prostate Cancer

Disease-causing genes can run in families. Prostate cancer is the most heritable of all the significant malignancies; genetic factors cause up to 60% of cases. Men may be twice as likely to get prostate cancer if they have a close cousin who has it, and they may be almost four times more likely to get a diagnosis if they have two or more relatives. Affected family members who received a diagnosis before the age of 60 are at a higher risk.

As we learn more about the genetic foundations of cancer, we find that men who have a strong family history of other diseases, such as breast, ovarian, colon, or pancreatic cancer, may also be more susceptible to prostate cancer.

A family's total risk of prostate cancer may be influenced by several genetic factors because family members often share several genes. Nevertheless, we now know that certain genes (such as BRCA2) raise the risk of prostate cancer if specific alterations (mutations) occur in the gene. It could be necessary to screen men with these gene alterations differently.

BRCA1 and BRCA2 Mutations

Prostate cancer is significantly influenced by the BRCA1 and BRCA2 genes, which are well-known for their links to ovarian and breast malignancies. Prostate cancer, especially its more aggressive forms, is more likely to strike men who inherit mutations in the BRCA1 or BRCA2 genes. These mutations affect the body's capacity to fix DNA, which can result in cancer and unchecked cell development.

Prostate cancer is more likely to strike males with BRCA2 mutations, namely, at a younger age and in more aggressive forms, according to studies. A family history of prostate cancer or other cancers, such as breast or ovarian cancer, increases the risk even further.

HOXB13 Gene Mutation

Another genetic variation connected to prostate cancer is the HOXB13 gene. It has been discovered that mutations in this gene raise the risk of prostate cancer, particularly in men who have a family history of the condition. Changes in the HOXB13 gene can impair normal prostate cell activity and result in cancer because it regulates cell proliferation and differentiation.

Despite being very uncommon, the HOXB13 mutation has been demonstrated to raise the risk of prostate cancer in some families dramatically. It has been the focus of a lot of research lately and is one of the most significant genetic markers for hereditary prostate cancer.

Lynch Syndrome

A genetic disorder called Lynch syndrome raises the risk of prostate cancer, among other cancers. The cause is hereditary mutations in the mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. During cell division, these genes are in charge of fixing mistakes in the DNA sequence. Mutations in them result in defective DNA repair, which raises the risk of cancer.

Although Lynch syndrome is more frequently linked to colorectal cancer, people who have it are also more likely to develop prostate cancer. Men with Lynch syndrome may develop prostate cancer more aggressively and earlier than men without the mutation.

Family History and Hereditary Prostate Cancer

One of the most well-established risk factors for prostate cancer is family history. Men are more likely to get prostate cancer themselves if a close relative, such a father or brother, has been diagnosed with the disease. Because of genetic abnormalities, prostate cancer can occasionally be inherited and handed down from one generation to the next.

A minor portion of all cases of prostate cancer are hereditary, but it plays a big role for those who have several family members with the disease. A man's chance of getting prostate cancer is significantly increased if he has two or more first-degree relatives (father, brother, or son) who have been diagnosed with the condition.

The previously mentioned genetic mutations, including Lynch syndrome, HOXB13, and BRCA2, are frequently inherited. To better understand their risk, men with a family history of prostate cancer should think about genetic counselling and testing.

Read more - Tumour Genetic Testing: Understanding Cancer Mutations

Genetic Testing and Early Detection

Genetic testing has become a more significant tool in understanding prostate cancer risk as a result of advances in genetic research. Genetic testing can help detect inherited mutations that may increase the risk of prostate cancer, and it can help men with a family history of the disease make informed decisions about screening and prevention.

Because successful treatment depends on early identification, men with known genetic abnormalities such as BRCA2 or HOXB13 may be recommended to start prostate cancer screening earlier in life. Because some treatments may work better for people with particular genetic variations, genetic testing can also help guide therapy choices. For instance, tailored medicines that mainly address defects in DNA repair may be beneficial for men with BRCA mutations.

Future Research and the Promise of Precision Medicine

The genetics of prostate cancer is a rapidly developing field. New genetic variations are constantly being found, and scientists are learning more about how these mutations affect the course of the disease. The diagnosis, treatment, and prevention of prostate cancer could all be entirely changed by this discovery.

Precision medicine, which analyses genetic data to customise therapies for specific patients, is an exciting area of study. As more is discovered about the genetic composition of prostate cancer, doctors may be able to provide more individualised therapy choices that target particular mutations and enhance patient outcomes.

Prostate cancer screening recommendations will also be improved by continuing research into the genetic and environmental variables that contribute to the disease, guaranteeing that men who are most at risk are adequately watched for early indications of the condition.

Conclusion

Prostate cancer is primarily influenced by genetics, which affects the disease's progression as well as its risk. People can make better health decisions if they are aware of the genetic factors at play, particularly if they have a family history of prostate cancer or other associated cancers. Better results and more successful preventative measures are anticipated in the future of prostate cancer care thanks to developments in genetic testing, individualised treatment plans, and continuing research. Consulting a medical expert and thinking about genetic testing could be a crucial first step in safeguarding your health if you are worried about your risk of prostate cancer.

Frequently Asked Questions

What is prostate cancer, and how does it develop?

Prostate cancer starts in the prostate gland. It often grows slowly but can be aggressive and spread. Early detection is key to successful treatment.

How does genetics influence prostate cancer risk?

Genetics play a major role, with up to 60% of cases being hereditary. A family history, especially in close relatives, and mutations in genes like BRCA2 and HOXB13 increase the risk.

What are BRCA1 and BRCA2 mutations, and how do they affect prostate cancer risk?

Mutations in BRCA1 and BRCA2 increase prostate cancer risk, especially in younger men. These mutations impair DNA repair, leading to cancer development.

What is Lynch syndrome, and how is it related to prostate cancer?

Lynch syndrome, caused by mutations in DNA repair genes, raises the risk of prostate cancer, often at a younger age and in more aggressive forms.

How can genetic testing help in the detection and treatment of prostate cancer?

Genetic testing can identify mutations that increase prostate cancer risk. It helps guide early screening and personalised treatment, improving outcomes.