World J Surg Surg Res | Volume 5, Issue 1 | Research Article | Open Access

Prostate Cancer Susceptibility Genes: A Review of Disease Spectrum

Acar A1#, Yin K2#, Singh P2, Wang J3, Zhou J4, Savage SJ5,6 and Hughes KS7*

1Department of Emergency, Avrupa Hospital, Istanbul, Turkey 2Division of Surgical Oncology, Massachusetts General Hospital, Harvard Medical School, USA 3Department of Breast Oncology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, China 4Department of General Surgery, Beijing Anzhen Hospital, Capital Medical University, China 5Department of Urology, Medical University of South Carolina (MUSC), USA 6Ralph H. Johnson VA Medical Center, Charleston, SC, USA 7Department of Surgery, Division of Oncologic & Endocrine Surgery, Medical University of South Carolina, USA

*Correspondance to: Kevin S Hughes 

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Background: Prostate Cancer (PrCa) is the second leading cancer diagnosed in men worldwide. Hereditary prostate cancer accounts for around 5% to 10% of these cases. Objective: To provide an accessible, easy-to-use resource to improve clinicians’ awareness regarding susceptibility genes for hereditary PrCa and the disease spectrum associated with these genes. Methods: Thirty-seven potential genes were identified by searching for relevant studies in PubMed. Each candidate gene was evaluated using data from six well established genetic resources: ClinGen, National Comprehensive Cancer Network (NCCN) guidelines, Gene-NCBI, GeneCards, Genetics Home Reference, and Online Mendelian Inheritance in Man (OMIM). Afterward, a validated Natural Language Processing (NLP)-based literature review protocol was used to assess genedisease associations where findings were not conclusive. Results: Among 37 candidate genes, 14 (ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, RAD51C, RAD51D, and PMS2) were verified based on the six genetic resources. Ninety diseases were found to be associated with these 14 PrCa susceptibility genes. The following diseases were associated with more than one PrCa susceptibility gene: prostate, ovarian, breast, gastric, colorectal, pancreatic, endometrial, hepatobiliary, kidney, sebaceous, urinary tract, bladder, small intestine, and thyroid cancers; adrenal cortical carcinoma, glioblastoma multiforme, leukemia, melanoma, sarcoma, and benign skin conditions. Conclusion: We identified and verified 14 PrCa susceptibility genes and their associations with other diseases. We also found 90 associations with other diseases, including female genital, gastrointestinal, breast, and urinary tract cancers. Patients bearing these PrCa susceptibility genes may need close surveillance and relevant counseling beyond their PrCa risk.


Prostate cancer; Germline mutation; Disease spectrum; Cancer susceptibility gene


Acar A, Yin K, Singh P, Wang J, Zhou J, Savage SJ, et al. Prostate Cancer Susceptibility Genes: A Review of Disease Spectrum. World J Surg Surgical Res. 2022; 5: 1411..

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