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Hereditary prostate cancer
This condition involves an increased risk of developing prostate cancer, often at a younger age or with more aggressive features, due to specific genetic variants passed down through families. It affects men with a family history of prostate cancer or related cancers.
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Overview
Prostate cancer is a common cancer affecting men, but a proportion of cases, estimated between 5% and 10%, are considered hereditary [PMID:33671217]. This means the risk is significantly influenced by inherited genetic changes passed down through generations. Hereditary prostate cancer often presents at an earlier age compared to non-hereditary forms, and can sometimes be more aggressive [PMID:34220708].
Recognising hereditary prostate cancer is important for both the individual and their family members. It can guide screening decisions, risk-reducing strategies, and potentially influence treatment choices. Genetic counselling and testing play a crucial role in identifying those at higher risk.
Symptoms & clinical features
Hereditary prostate cancer does not typically cause unique symptoms that differentiate it from sporadic prostate cancer. Symptoms, when they occur, are generally related to the growth of the prostate gland or the spread of cancer.
Common symptoms can include difficulties with urination, such as a weaker stream, frequent urination (especially at night), or urgency. Some men may experience blood in their urine or semen, or pain in the back, hips, or pelvis if the cancer has spread. However, many men with early prostate cancer may not experience any symptoms at all, making screening an important tool for early detection.
Video: Is cancer in your genes?
Affected organs
The primary organ affected by hereditary prostate cancer is the prostate gland itself, which is a small gland located below the bladder in men, surrounding the urethra. The prostate gland produces seminal fluid.
If the cancer progresses, it can spread to nearby tissues and organs, such as the seminal vesicles, bladder, or rectum. It can also spread through the bloodstream or lymphatic system to more distant parts of the body, most commonly the bones, but also the lungs, liver, and brain.
Risks & severity
The lifetime risk of developing prostate cancer is increased for men with hereditary prostate cancer, and the condition is often associated with earlier onset than sporadic cases [PMID:34220708]. For example, men with certain genetic changes may develop prostate cancer before the age of 60. Some genetic variants are also linked to more aggressive forms of the disease.
The severity of prostate cancer can vary significantly. While some cancers are slow-growing and may never cause significant health problems, others can be aggressive and spread rapidly. Understanding an individual's genetic risk can help inform a personalised approach to screening and management, potentially leading to earlier detection of treatable disease.
Genetic causes
Hereditary prostate cancer is primarily associated with inherited changes in specific genes. Two genes commonly implicated are BRCA2 and HOXB13.
The BRCA2 gene provides instructions for making a protein involved in DNA repair, specifically fixing double-strand breaks [PMID:33671217]. Pathogenic variants in BRCA2 mean this repair process is less efficient, leading to an accumulation of DNA damage that can increase the risk of various cancers, including prostate cancer, breast cancer, and ovarian cancer.
HOXB13 plays a role in regulating cell growth and development, particularly in the prostate. Variants in HOXB13 are strongly associated with an increased risk of early-onset and familial prostate cancer. Both BRCA2 and HOXB13 variants are inherited in an autosomal dominant pattern, meaning only one altered copy of the gene is needed to increase cancer risk.
- BRCA2 BRCA2 DNA repair associatedBRCA2 encodes a tumour suppressor protein critical for repairing DNA double-strand breaks and maintaining genomic stability.
- HOXB13 homeobox B13The HOXB13 gene provides instructions for a protein that acts as a transcription factor, playing a key role in growth, development, and maintaining normal cell division.
Inheritance pattern
Hereditary prostate cancer follows an autosomal dominant inheritance pattern. This means that if an individual has one altered copy of a relevant gene (such as BRCA2 or HOXB13), they have an increased risk of developing prostate cancer.
Each child of an individual with an autosomal dominant genetic variant has a 50% chance of inheriting that same variant. This pattern applies equally to sons and daughters, although prostate cancer primarily affects males. Daughters who inherit a variant, such as in BRCA2, may be at increased risk for other cancers, such as breast or ovarian cancer, and can pass the variant on to their own children.
Each child has a 50% chance of inheriting the pathogenic variant, regardless of sex.
Diagnosis & testing
Diagnosis of hereditary prostate cancer typically begins with a thorough evaluation of an individual's personal and family medical history. A strong family history of prostate cancer, particularly early-onset or aggressive disease, or a history of other related cancers like breast or ovarian cancer, may suggest a hereditary predisposition.
Confirmation of hereditary prostate cancer relies on genetic testing. If a hereditary cause is suspected, an individual may be referred to a clinical genetics service within the NHS. Genetic testing can identify specific pathogenic variants in genes like BRCA2 or HOXB13. The NHS Genomic Medicine Service offers genomic testing for inherited cancer predispositions under specific R-codes, such as R204 for prostate cancer predisposition, guiding the diagnostic pathway.
Management & lifestyle
Managing hereditary prostate cancer involves a personalised approach focused on early detection and risk reduction. For individuals identified as having a genetic predisposition, enhanced screening protocols may be recommended. This could include earlier and more frequent prostate-specific antigen (PSA) blood tests and digital rectal examinations (DRE) than recommended for the general population.
Risk-reducing strategies, surveillance protocols, and treatment options are determined by a multi-disciplinary team, often including urologists, oncologists, and clinical geneticists. Lifestyle considerations, such as maintaining a healthy weight, regular exercise, and a balanced diet, are generally advised for overall health, though their specific impact on hereditary prostate cancer risk is still being researched. Individuals are encouraged to discuss their personal management plan with their healthcare team.
UK care pathway
In the UK, the care pathway for individuals with suspected hereditary prostate cancer begins with referral to a clinical genetics service. This is typically initiated by a GP or specialist if there's a significant family history or personal history suggestive of a hereditary cancer syndrome. Genetic counsellors play a key role, providing information, support, and discussing the implications of genetic testing for the individual and their family.
The NHS Genomic Medicine Service provides comprehensive genomic testing, guided by national testing criteria and specific R-codes, such as R204 for prostate cancer predisposition. If a pathogenic variant is identified, the clinical genetics team will work with other specialists to establish a personalised management and surveillance plan, aligning with national guidelines and best practice.
Frequently asked questions
What is the difference between hereditary and sporadic prostate cancer?
Hereditary prostate cancer is caused by inherited genetic changes passed down through families, leading to an increased risk. Sporadic prostate cancer develops due to random genetic changes that occur during a person's lifetime and is not inherited.
If my father had hereditary prostate cancer, what is my risk?
If your father had hereditary prostate cancer due to an autosomal dominant genetic variant, you would have a 50% chance of inheriting the same variant. Inheriting the variant increases your risk of developing prostate cancer, potentially at an earlier age.
Will I definitely get prostate cancer if I have a genetic variant for it?
No, inheriting a genetic variant for hereditary prostate cancer does not mean you will definitely develop the disease. It means your risk is significantly increased compared to the general population. Many factors, including other genes and lifestyle, can influence whether cancer develops.
What kind of screening is recommended for hereditary prostate cancer?
Recommendations typically include earlier and more frequent prostate-specific antigen (PSA) blood tests and digital rectal examinations (DRE) compared to general population guidelines. Specific guidance will come from your clinical genetics team and urologist.
Can women in the family be affected by hereditary prostate cancer genes?
While prostate cancer affects men, women can carry the genetic variants, such as in BRCA2, and pass them on to their children. Women carrying these variants may also be at increased risk for other cancers, such as breast or ovarian cancer.
References
- Vietri MT, D'Elia G, Caliendo G. Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention. International journal of molecular sciences. 2021. PMID: 33916521
- Damber JE. Hereditary prostate cancer. Scandinavian journal of urology and nephrology. Supplementum. 1999. PMID: 10636566
- Chou WH, Chalker C, Sokolova AO. Prostate cancer and genetic contributions. Andrology. 2025. PMID: 39611376
- Zhen JT, Syed J, Nguyen KA. Genetic testing for hereditary prostate cancer: Current status and limitations. Cancer. 2018. PMID: 29669169
- Giri VN, Beebe-Dimmer JL. Familial prostate cancer. Seminars in oncology. 2016. PMID: 27899188
- Lynch HT, Kosoko-Lasaki O, Leslie SW. Screening for familial and hereditary prostate cancer. International journal of cancer. 2016. PMID: 26638190
- Bratt O. Hereditary prostate cancer: clinical aspects. The Journal of urology. 2002. PMID: 12187189
- Heidegger I, Tsaur I, Borgmann H. Hereditary prostate cancer - Primetime for genetic testing? Cancer treatment reviews. 2019. PMID: 31783313