Sperling Prostate Center

Screening For Inherited Prostate Cancer Genes

UPDATE: 5/24/2023
Originally published 3/21/2016

A 2022 journal article explored the feasibility and usefulness of genetic testing and genetic risk-scores in screening for prostate cancer (PCa), and stratifying men according to their genomic risk. [i]

There are now at least 170 genetic variants (commonly called “snips” or SNPs, short of single nucleotide polymorphisms) linked with higher risk of developing prostate cancer. Some are rare, but in one study the five most common SNPs found in men with a family history of PCa were estimated to account for 46% of the PCa cases in the study population.[ii]

The authors of the 2022 paper note that pre-biopsy MRI has revolutionized PCa detection and minimized overdiagnosis thanks to imaging and targeted biopsies.

Since the understanding of genomic risk factors is now vastly improved, they suggest that genetic screening for men with PCa family history can enable better risk stratification, thereby enhancing treatment planning and matching.


Most men like the idea of inheriting positive genetic traits from their parents: intelligence, good looks, a full head of hair, a slim but muscular body type, etc. No one, however, wants a genetic disorder, or a genetic vulnerability for disease.

There is a difference between these two hereditary conditions. A genetic disorder means an inherited medical condition caused by an abnormality in DNA that is present at birth. While relatively rare, the heartbreak of such disorders is that their course is inevitable and there is no cure. However, if a genetic disorder is discovered early in a pregnancy thanks to today’s sophisticated testing, parents can receive special counseling to help them make informed decisions.

What about families in which there is a history of prostate or breast cancer? (Yes, some men diagnosed with prostate cancer are found to have the same gene mutations that are connected with breast cancer.) We know about the tendency in some families to develop a pattern of prostate cancer, and I have written about how demographic studies calculate the risk across large populations . It appears that a minority of cases, perhaps 5-10%, are probably due to inherited genes. But these studies don’t really console an individual who wonders, “Do I have a genetic time bomb ticking in my body?” But if he could find out, knowledge can be his best friend. And in fact, screening can provide that information.

A multi-institutional team of researchers did a literature-based analysis of known genetic markers that predispose a man (create a vulnerability) for prostate cancer.[iii] They sorted through a huge body of information to find markers that present in men who already had prostate cancer, including some that appear associated with early onset and aggressive cancer. There was a wide variety and range of markers, but they concluded that combinations of mutations in a given individual were more likely to predict risk than if just a single abnormality was found. However, two particular mutations (BRCA2 associated with breast cancer, and the G84E mutation in HOXB13 associated with prostate development) were more correlated with prostate cancer than others.

Three points are reassuring for men with a family history of prostate or breast cancer:

  • Gene mutations associated with prostate cancer can be screened for. If you are worried about your family history, talk to your doctor or urologic specialist about the tests that are available and which are right for you.
  • Research is demonstrating that lifestyle changes do, in fact, influence the genes that regulate tumor growth.
  • Prostate cancer, when found early, is curable.

Men who want to empower themselves to reduce the chances of developing prostate cancer can commit to changes in nutrition (the Mediterranean diet is one example of anti-cancer eating, especially eliminating unhealthy fats and sugar which feed tumor cells), exercise, and stress management; stop smoking; cut down on alcohol; better emotional health, etc.

One more important recommendation: regular PSA screening is helpful but not definitive, so get a baseline 3T multiparametric MRI of your prostate. If nothing suspicious shows up, great! It will serve as a reference if PSA begins to rise, even slightly, when another MRI can be done. And if the radiologist finds an abnormality on the MRI, a targeted MRI-guided biopsy can provide the most accurate way to rule cancer in or out. As I mentioned, prostate cancer can be cured if it is found when it is still contained in the gland. Depending on the individual, a focal treatment such as Focal Laser Ablation (FLA) may be an appropriate choice. You can learn more about here.

So don’t despair if there is a history of prostate or breast cancer in your family. Seek testing, get a baseline multiparametric MRI (be sure it’s on a powerful 3T magnet) and why wait to make healthier choices in your life? Start eating better, take the right supplements made by reputable companies, do strenuous exercise at least 3 times per week, and remember to breathe deeply frequently throughout the day. Embrace health, because your life literally depends on it!

NOTE: This content is solely for purposes of information and does not substitute for diagnostic or medical advice. Talk to your doctor if you are experiencing pelvic pain, or have any other health concerns or questions of a personal medical nature.

[i] Ni Raghallaigh H, Eeles R. Genetic predisposition to prostate cancer: an update. Fam Cancer. 2022 Jan;21(1):101-114. doi: 10.1007/s10689-021-00227-3.
[ii] Zheng SL, Sun J, Wiklund F, Smith S et al. Cumulative association of five genetic variants with prostate cancer. N Engl J Med. 2008 Feb 28;358(9):910-9.
[iii] Lynch HT, Kosoko-Lasaki O, Leslie SW, Rendell M et al. Screening for Familial and Hereditary Prostate Cancer. Int J Cancer. 2015 Dec 5. doi: 10.1002/ijc.29949. [Epub ahead of print]


About Dr. Dan Sperling

Dan Sperling, MD, DABR, is a board certified radiologist who is globally recognized as a leader in multiparametric MRI for the detection and diagnosis of a range of disease conditions. As Medical Director of the Sperling Prostate Center, Sperling Medical Group and Sperling Neurosurgery Associates, he and his team are on the leading edge of significant change in medical practice. He is the co-author of the new patient book Redefining Prostate Cancer, and is a contributing author on over 25 published studies. For more information, contact the Sperling Prostate Center.

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