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Prostate cancer

Genetic profiling of hormone-sensitive and castration-resistant prostate cancers and identification of genetic mutations prone to castration-resistant prostate cancer

  • Siegel RL, Miller KD, Fuchs HE, Jemal A. Cancer statistics, 2022. CA Cancer J Clin. 2022;72:7–33.

    PubMed 

    Google Scholar
     

  • Xia C, Dong X, Li H, Cao M, Sun D, He S, et al. Cancer statistics in China and United States, 2022: profiles, trends, and determinants. Chin Med J. 2022;135:584–90.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Harris WP, Mostaghel EA, Nelson PS, Montgomery B. Androgen deprivation therapy: progress in understanding mechanisms of resistance and optimizing androgen depletion. Nat Clin Pract Urol. 2009;6:76–85.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Spiess PE, Katz AE, Chin JL, Bahn D, Cohen JK, Shinohara K, et al. A pretreatment nomogram predicting biochemical failure after salvage cryotherapy for locally recurrent prostate cancer. BJU Int. 2010;106:194–8.

    PubMed 

    Google Scholar
     

  • Koo KC, Park SU, Kim KH, Rha KH, Hong SJ, Yang SC, et al. Prognostic impacts of metastatic site and pain on progression to castrate resistance and mortality in patients with metastatic prostate cancer. Yonsei Med J. 2015;56:1206–12.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Tang DG. Understanding and targeting prostate cancer cell heterogeneity and plasticity. Semin Cancer Biol. 2022;82:68–93.

  • Li M, Nopparat J, Aguilar BJ, Chen YH, Zhang J, Du J, et al. Intratumor δ-catenin heterogeneity driven by genomic rearrangement dictates growth factor dependent prostate cancer progression. Oncogene. 2020;39:4358–74.

    CAS 
    PubMed 

    Google Scholar
     

  • Teng PC, Huang SP, Liu CH, Lin TY, Cho YC, Lai YL, et al. Identification of DNA damage repair-associated prognostic biomarkers for prostate cancer using transcriptomic data analysis. Int J Mol Sci. 2021;22:11771.

  • Hamid AA, Gray KP, Shaw G, MacConaill LE, Evan C, Bernard B, et al. Compound genomic alterations of TP53, PTEN, and RB1 tumor suppressors in localized and metastatic prostate cancer. Eur Urol. 2019;76:89–97.

    CAS 
    PubMed 

    Google Scholar
     

  • De Laere B, van Dam PJ, Whitington T, Mayrhofer M, Diaz EH, Van den Eynden G, et al. Comprehensive profiling of the androgen receptor in liquid biopsies from castration-resistant prostate cancer reveals novel intra-AR structural variation and splice variant expression patterns. Eur Urol. 2017;72:192–200.

    PubMed 

    Google Scholar
     

  • Joseph JD, Lu N, Qian J, Sensintaffar J, Shao G, Brigham D, et al. A clinically relevant androgen receptor mutation confers resistance to second-generation antiandrogens enzalutamide and ARN-509. Cancer Discov. 2013;3:1020–9.

    CAS 
    PubMed 

    Google Scholar
     

  • Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A. Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol. 2013;10:472–84.

    CAS 
    PubMed 

    Google Scholar
     

  • Di Meo A, Bartlett J, Cheng Y, Pasic MD, Yousef GM. Liquid biopsy: a step forward towards precision medicine in urologic malignancies. Mol Cancer. 2017;16:80.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Annala M, Vandekerkhove G, Khalaf D, Taavitsainen S, Beja K, Warner EW, et al. Circulating tumor DNA genomics correlate with resistance to abiraterone and enzalutamide in prostate cancer. Cancer Discov. 2018;8:444–57.

    CAS 
    PubMed 

    Google Scholar
     

  • Wyatt AW, Azad AA, Volik SV, Annala M, Beja K, McConeghy B, et al. Genomic alterations in cell-free DNA and enzalutamide resistance in castration-resistant prostate cancer. JAMA Oncol. 2016;2:1598–606.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Cornford P, Bellmunt J, Bolla M, Briers E, De Santis M, Gross T, et al. EAU-ESTRO-SIOG guidelines on prostate cancer. Part II: treatment of relapsing, metastatic, and castration-resistant prostate cancer. Eur Urol. 2017;71:630–42.

    PubMed 

    Google Scholar
     

  • Sabari JK, Offin M, Stephens D, Ni A, Lee A, Pavlakis N, et al. A prospective study of circulating tumor DNA to guide matched targeted therapy in lung cancers. J Natl Cancer Inst. 2019;111:575–83.

    PubMed 

    Google Scholar
     

  • Takami H, Fukuoka K, Fukushima S, Nakamura T, Mukasa A, Saito N, et al. Integrated clinical, histopathological, and molecular data analysis of 190 central nervous system germ cell tumors from the iGCT Consortium. Neuro-Oncol. 2019;21:1565–77.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Onken MD, Worley LA, Dávila RM, Char DH, Harbour JW. Prognostic testing in uveal melanoma by transcriptomic profiling of fine needle biopsy specimens. J Mol Diagn. 2006;8:567–73.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • McCoy P, Mangiola S, Macintyre G, Hutchinson R, Tran B, Pope B, et al. MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer. Prostate Cancer Prostatic Dis. 2021;24:1167–80.

    CAS 
    PubMed 

    Google Scholar
     

  • Ballhausen A, Przybilla MJ, Jendrusch M, Haupt S, Pfaffendorf E, Seidler F, et al. The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution. Nat Commun. 2020;11:4740.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Mateo J, Seed G, Bertan C, Rescigno P, Dolling D, Figueiredo I, et al. Genomics of lethal prostate cancer at diagnosis and castration resistance. J Clin Investig. 2020;130:1743–51.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Stopsack KH, Nandakumar S, Wibmer AG, Haywood S, Weg ES, Barnett ES, et al. Oncogenic genomic alterations, clinical phenotypes, and outcomes in metastatic castration-sensitive prostate cancer. Clin Cancer Res. 2020;26:3230–8.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Reimers MA, Yip SM, Zhang L, Cieslik M, Dhawan M, Montgomery B, et al. Clinical outcomes in cyclin-dependent kinase 12 mutant advanced prostate cancer. Eur Urol. 2020;77:333–41.

    CAS 
    PubMed 

    Google Scholar
     

  • Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23:703–13.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Stuopelyte K, Sabaliauskaite R, Bakavicius A, Haflidadóttir BS, Visakorpi T, Väänänen RM, et al. Analysis of AR-FL and AR-V1 in whole blood of patients with castration resistant prostate cancer as a tool for predicting response to abiraterone acetate. J Urol. 2020;204:71–78.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Choudhury AD, Werner L, Francini E, Wei XX, Ha G, Freeman SS, et al. Tumor fraction in cell-free DNA as a biomarker in prostate cancer. JCI Insight. 2018;3:e122109.

  • Kohli M, Li J, Du M, Hillman DW, Dehm SM, Tan W, et al. Prognostic association of plasma cell-free DNA-based androgen receptor amplification and circulating tumor cells in pre-chemotherapy metastatic castration-resistant prostate cancer patients. Prostate Cancer Prostatic Dis. 2018;21:411–8.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Fu Y, Wang A, Zhou J, Feng W, Shi M, Xu X, et al. Advanced NSCLC patients with EGFR T790M harboring TP53 R273C or KRAS G12V cannot benefit from osimertinib based on a clinical multicentre study by tissue and liquid biopsy. Front Oncol. 2021;11:621992.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Vandekerkhove G, Struss WJ, Annala M, Kallio HML, Khalaf D, Warner EW, et al. Circulating tumor DNA abundance and potential utility in de novo metastatic prostate cancer. Eur Urol. 2019;75:667–75.

    CAS 
    PubMed 

    Google Scholar
     

  • Jacob F, Salinas RD, Zhang DY, Nguyen PTT, Schnoll JG, Wong SZH, et al. A patient-derived glioblastoma organoid model and biobank recapitulates inter- and intra-tumoral heterogeneity. Cell. 2020;180:188–204.e122.

    CAS 
    PubMed 

    Google Scholar
     

  • Abida W, Armenia J, Gopalan A, Brennan R, Walsh M, Barron D, et al. Prospective genomic profiling of prostate cancer across disease states reveals germline and somatic alterations that may affect clinical decision making. JCO Precis Oncol. 2017;2017:PO.17.00029.

  • Wu YM, Cieślik M, Lonigro RJ, Vats P, Reimers MA, Cao X, et al. Inactivation of CDK12 delineates a distinct immunogenic class of advanced prostate cancer. Cell. 2018;173:1770.e1714.

    CAS 
    PubMed 

    Google Scholar
     

  • Antonarakis ES, Isaacsson Velho P, Fu W, Wang H, Agarwal N, Sacristan Santos V, et al. CDK12-altered prostate cancer: clinical features and therapeutic outcomes to standard systemic therapies, poly (ADP-ribose) polymerase inhibitors, and PD-1 inhibitors. JCO Precis Oncol. 2020;4:370–81.

    PubMed 

    Google Scholar
     

  • Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123–34.

    CAS 
    PubMed 

    Google Scholar
     

  • Pomerantz MM, Spisák S, Jia L, Cronin AM, Csabai I, Ledet E, et al. The association between germline BRCA2 variants and sensitivity to platinum-based chemotherapy among men with metastatic prostate cancer. Cancer. 2017;123:3532–9.

    CAS 
    PubMed 

    Google Scholar
     

  • Tang T, Wang LA, Wang P, Tong D, Liu G, Zhang J, et al. Case report: co-existence of BRCA2 and PALB2 germline mutations in familial prostate cancer with solitary lung metastasis. Front Oncol. 2020;10:564694.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Liu Q, Tong D, Liu G, Yi Y, Xu J, Yang X, et al. A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy. Cancer Biol Ther. 2018;19:669–75.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Piazza A, Heyer WD. Homologous recombination and the formation of complex genomic rearrangements. Trends Cell Biol. 2019;29:135–49.

    CAS 
    PubMed 

    Google Scholar
     

  • Mateo J, Boysen G, Barbieri CE, Bryant HE, Castro E, Nelson PS, et al. DNA repair in prostate cancer: biology and clinical implications. Eur Urol. 2017;71:417–25.

    CAS 
    PubMed 

    Google Scholar
     

  • Shafi AA, Yen AE, Weigel NL. Androgen receptors in hormone-dependent and castration-resistant prostate cancer. Pharmacol Ther. 2013;140:223–38.

    CAS 
    PubMed 

    Google Scholar
     

  • Murillo-Garzón V, Kypta R. WNT signalling in prostate cancer. Nat Rev Urol. 2017;14:683–96.

    PubMed 

    Google Scholar
     

  • Tang F, Xu D, Wang S, Wong CK, Martinez-Fundichely A, Lee CJ, et al. Chromatin profiles classify castration-resistant prostate cancers suggesting therapeutic targets. Science. 2022;376:eabe1505.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Li P, Yang R, Gao WQ. Contributions of epithelial-mesenchymal transition and cancer stem cells to the development of castration resistance of prostate cancer. Mol Cancer. 2014;13:55.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Cheng Q, Butler W, Zhou Y, Zhang H, Tang L, Perkinson K, et al. Pre-existing castration-resistant prostate cancer-like cells in primary prostate cancer promote resistance to hormonal therapy. Eur Urol. 2022;81:446–55.

    CAS 
    PubMed 

    Google Scholar
     

  • Liu Q, Tong D, Liu G, Xu J, Do K, Geary K, et al. Metformin reverses prostate cancer resistance to enzalutamide by targeting TGF-β1/STAT3 axis-regulated EMT. Cell Death Dis. 2017;8:e3007.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar