Genetic predisposition to prostate cancer: an update

作者: Holly Ni Raghallaigh , Rosalind Eeles

DOI: 10.1007/S10689-021-00227-3

关键词: OverdiagnosisGenetic testingGenetic predispositionCancerPopulationFamilial prostate cancerProstate cancer screeningMedicineOncologyProstate cancerInternal medicine

摘要: Improvements in DNA sequencing technology and discoveries made by large scale genome-wide association studies have led to enormous insight into the role of genetic variation prostate cancer risk. High-risk risk predisposition genes exist addition common germline variants conferring low-moderate risk, which together account for over a third familial Identifying men with additional factors such as or positive family history is clinical importance, higher incidence some evidence suggest diagnosis at younger age poorer outcomes. The medical community remains disagreement on benefits population screening programme reliant PSA testing. A reduction mortality has been demonstrated many studies, but cost significant amounts overdiagnosis overtreatment. Developing targeted strategies high-risk currently subject investigation number prospective studies. At present, approximately 38% PrCa can be explained based published SNPs, top 1% profile having 5.71-fold increase developing compared controls. With 170 susceptibility loci now identified European populations, there scope explore utility testing genetic-risk scores stratification, data non-European populations eagerly awaited. This review will focus both rare involved hereditary cancer, discuss ongoing research exploring this group men.

参考文章(91)
Bob S. Carter, G. Steven Bova, Terri H. Beaty, Gary D. Steinberg, Barton Childs, William B. Isaacs, Patrick C. Walsh, Hereditary Prostate Cancer: Epidemiologic and Clinical Features Journal of Urology. ,vol. 150, pp. 797- 802 ,(1993) , 10.1016/S0022-5347(17)35617-3
J. Melia, C. Moynihan, S. Peock, G. Rennert, F. Schröder, P. Sibley, M. Suri, P. Wilson, Y. J. Bignon, S. Strom, M. Tischkowitz, A. Liljegren, D. Ilencikova, A. Abele, K. Kyriacou, C. van Asperen, L. Kiemeney, D. F. Easton, Rosalind A. Eeles, , Anita V. Mitra, Elizabeth K. Bancroft, Yolanda Barbachano, Elizabeth C. Page, C. S. Foster, C. Jameson, G. Mitchell, G. J. Lindeman, A. Stapleton, G. Suthers, D. G. Evans, D. Cruger, I. Blanco, C. Mercer, J. Kirk, L. Maehle, S. Hodgson, L. Walker, L. Izatt, F. Douglas, K. Tucker, H. Dorkins, V. Clowes, A. Male, A. Donaldson, C. Brewer, R. Doherty, B. Bulman, P. J. Osther, M. Salinas, D. Eccles, K. Axcrona, I. Jobson, B. Newcombe, C. Cybulski, W. S. Rubinstein, S. Buys, S. Townshend, E. Friedman, S. Domchek, T. Ramon y Cajal, A. Spigelman, S. H. Teo, N. Nicolai, N. Aaronson, A. Ardern-Jones, C. Bangma, D. Dearnaley, J. Eyfjord, A. Falconer, H. Grönberg, F. Hamdy, O. Johannsson, V. Khoo, Z. Kote-Jarai, H. Lilja, J. Lubinski, Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study BJU International. ,vol. 107, pp. 28- 39 ,(2011) , 10.1111/J.1464-410X.2010.09648.X
Marco Randazzo, Alexander Müller, Sigrid Carlsson, Daniel Eberli, Andreas Huber, Rainer Grobholz, Lukas Manka, Ashkan Mortezavi, Tullio Sulser, Franz Recker, Maciej Kwiatkowski, A positive family history as a risk factor for prostate cancer in a population‐based study with organised prostate‐specific antigen screening: results of the Swiss European Randomised Study of Screening for Prostate Cancer (ERSPC, Aarau) BJUI. ,vol. 117, pp. 576- 583 ,(2016) , 10.1111/BJU.13310
Ford, D, Easton, DF, Bishop, DT, Narod, SA, Goldgar, DE and the Breast Cancer Linkage Consortium, None, Risks of cancer in BRCA1-mutation carriers The Lancet. ,vol. 343, pp. 692- 695 ,(1994) , 10.1016/S0140-6736(94)91578-4
S. Lilly Zheng, Jielin Sun, Fredrik Wiklund, Shelly Smith, Pär Stattin, Ge Li, Hans-Olov Adami, Fang-Chi Hsu, Yi Zhu, Katarina Bälter, A. Karim Kader, Aubrey R. Turner, Wennuan Liu, Eugene R. Bleecker, Deborah A. Meyers, David Duggan, John D. Carpten, Bao-Li Chang, William B. Isaacs, Jianfeng Xu, Henrik Grönberg, Cumulative Association of Five Genetic Variants with Prostate Cancer The New England Journal of Medicine. ,vol. 358, pp. 910- 919 ,(2008) , 10.1056/NEJMOA075819
Rosalind A Eeles, , Zsofia Kote-Jarai, Graham G Giles, Ali Amin Al Olama, Michelle Guy, Sarah K Jugurnauth, Shani Mulholland, Daniel A Leongamornlert, Stephen M Edwards, Jonathan Morrison, Helen I Field, Melissa C Southey, Gianluca Severi, Jenny L Donovan, Freddie C Hamdy, David P Dearnaley, Kenneth R Muir, Charmaine Smith, Melisa Bagnato, Audrey T Ardern-Jones, Amanda L Hall, Lynne T O'Brien, Beatrice N Gehr-Swain, Rosemary A Wilkinson, Angie Cox, Sarah Lewis, Paul M Brown, Sameer G Jhavar, Malgorzata Tymrakiewicz, Artitaya Lophatananon, Sarah L Bryant, Alan Horwich, Robert A Huddart, Vincent S Khoo, Christopher C Parker, Christopher J Woodhouse, Alan Thompson, Tim Christmas, Chris Ogden, Cyril Fisher, Charles Jamieson, Colin S Cooper, Dallas R English, John L Hopper, David E Neal, Douglas F Easton, , , Multiple newly identified loci associated with prostate cancer susceptibility. Nature Genetics. ,vol. 40, pp. 316- 321 ,(2008) , 10.1038/NG.90
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti, Judy H Cho, Alan E Guttmacher, Augustine Kong, Leonid Kruglyak, Elaine Mardis, Charles N Rotimi, Montgomery Slatkin, David Valle, Alice S Whittemore, Michael Boehnke, Andrew G Clark, Evan E Eichler, Greg Gibson, Jonathan L Haines, Trudy FC Mackay, Steven A McCarroll, Peter M Visscher, None, Finding the missing heritability of complex diseases. Nature. ,vol. 461, pp. 747- 753 ,(2009) , 10.1038/NATURE08494
E H Seppälä, T Ikonen, N Mononen, V Autio, A Rökman, M P Matikainen, T L J Tammela, J Schleutker, CHEK2 variants associate with hereditary prostate cancer British Journal of Cancer. ,vol. 89, pp. 1966- 1970 ,(2003) , 10.1038/SJ.BJC.6601425
C. Cybulski, B. Górski, T. Huzarski, B. Masojć, M. Mierzejewski, T. Dębniak, U. Teodorczyk, T. Byrski, J. Gronwald, J. Matyjasik, E. Złowocka, M. Lenner, E. Grabowska, K. Nej, J. Castaneda, K. Mędrek, A. Szymańska, J. Szymańska, G. Kurzawski, J. Suchy, O. Oszurek, A. Witek, S.A. Narod, J. Lubiński, CHEK2 is a multiorgan cancer susceptibility gene American Journal of Human Genetics. ,vol. 75, pp. 1131- 1135 ,(2004) , 10.1086/426403
G. STEVEN BOVA, ALAN W. PARTIN, SARAH D. ISAACS, BOB S. CARTER, TERRI L. BEATY, WILLIAM B. ISAACS, PATRICK C. WALSH, BIOLOGICAL AGGRESSIVENESS OF HEREDITARY PROSTATE CANCER: LONG-TERM EVALUATION FOLLOWING RADICAL PROSTATECTOMY The Journal of Urology. ,vol. 160, pp. 660- 663 ,(1998) , 10.1016/S0022-5347(01)62748-4