The presence of prostate cancer at biopsy is predicted by a number of genetic variants

被引：5

作者：

Kashyap, Aniruddh ^{[1
]}

Kluzniak, Wojciech ^{[1
]}

Wokolorczyk, Dominika ^{[1
]}

Golab, Adam ^{[2
]}

Sikorski, Andrzej ^{[2
]}

Slojewski, Marcin ^{[2
]}

Gliniewicz, Bartlomiej ^{[3
]}

Switala, Jerzy ^{[3
]}

Borkowski, Tomasz ^{[4
]}

Borkowski, Andrzej ^{[4
]}

Antczak, Andrzej ^{[5
]}

Wojnar, Lukasz ^{[5
]}

Przybyla, Jacek ^{[6
]}

Sosnowski, Marek ^{[6
]}

Malkiewicz, Bartosz ^{[7
]}

Zdrojowy, Romuald ^{[7
]}

Sikorska-Radek, Paulina ^{[8
]}

Matych, Jozef ^{[8
]}

Wilkosz, Jacek ^{[9
]}

Rozanski, Waldemar ^{[9
]}

Kis, Jacek ^{[10
]}

Bar, Krzysztof ^{[10
]}

Bryniarski, Piotr ^{[11
]}

Paradysz, Andrzej ^{[11
]}

Jersak, Konrad ^{[12
]}

Niemirowicz, Jerzy ^{[12
]}

Slupski, Piotr ^{[13
]}

Jarzemski, Piotr ^{[13
]}

Skrzypczyk, Michal ^{[14
]}

Dobruch, Jakub ^{[14
]}

Domagala, Pawel ^{[15
]}

Piotrowski, Krzysztof ^{[16
]}

Jakubowska, Anna ^{[1
]}

Gronwald, Jacek ^{[1
]}

Huzarski, Tomasz ^{[1
]}

Byrski, Tomasz ^{[1
]}

Debniak, Tadeusz ^{[1
]}

Gorski, Bohdan ^{[1
]}

Masojc, Bartlomiej ^{[1
]}

de Wetering, Thierry van ^{[1
]}

Menkiszak, Janusz ^{[17
]}

Akbari, Mohammad R. ^{[18
]}

Lubinski, Jan ^{[1
]}

Narod, Steven A. ^{[18
]}

Cybulski, Cezary ^{[1
]}

机构：

[1] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, PL-70115 Szczecin, Poland

[2] Pomeranian Med Univ, Urol Clin, PL-70115 Szczecin, Poland

[3] Maria Skodowska Curie Hosp, Div Urol, Szczecin, Poland

[4] Med Univ Warsaw, Dept Urol, Warsaw, Poland

[5] Poznan Univ Med Sci, Dept Urol, Poznan, Poland

[6] Med Univ Lodz, Dept Urol, Lodz, Poland

[7] Univ Med, Dept Urol & Urol Oncol, Wroclaw, Poland

[8] Reg Hosp, Div Urol, Lodz, Poland

[9] Med Univ Lodz, Dept Urol 2, Lodz, Poland

[10] Univ Hosp Lublin, Dept Urol, Lublin, Poland

[11] Med Univ Silesia, Dept Urol, Zabrze, Poland

[12] Minist Internal Affairs & Adm Hosp, Dept Urol, Lodz, Poland

[13] J Biziel Hosp, Dept Urol, Bydgoszcz, Poland

[14] Ctr Postgraduate Urol Educ, Dept Urol, Warsaw, Poland

[15] Pomeranian Med Univ, Dept Pathol, PL-70115 Szczecin, Poland

[16] Pomeranian Med Univ, Cytogenet Unit Dept Pathol, PL-70115 Szczecin, Poland

[17] Pomeranian Med Univ, Dept Surg Gynecol & Gynecol Oncol Adults & Adoles, PL-70115 Szczecin, Poland

[18] Univ Toronto, Womens Coll, Res Inst, Womens Coll Hosp, Toronto, ON, Canada

来源：

INTERNATIONAL JOURNAL OF CANCER | 2014年 / 134卷 / 05期

关键词：

PSA; DRE; screening; prostate cancer; prostate biopsy; SNP; GENOME-WIDE ASSOCIATION; SINGLE NUCLEOTIDE POLYMORPHISMS; SUSCEPTIBILITY LOCI; MUTATION CARRIERS; BRCA2; MUTATION; RISK; MEN; IDENTIFICATION; ANTIGEN; 8Q24;

D O I：

10.1002/ijc.28447

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Several single nucleotide polymorphisms (SNPs) have been associated with an elevated risk of prostate cancer risk. It is not established if they are useful in predicting the presence of prostate cancer at biopsy or if they can be used to define a low-risk group of men. In this study, 4,548 men underwent a prostate biopsy because of an elevated prostate specific antigen (PSA; 4 ng/mL) or an abnormal digital rectal examination (DRE). All men were genotyped for 11 selected SNPs. The effect of each SNP, alone and in combination, on prostate cancer prevalence was studied. Of 4,548 men: 1,834 (40.3%) were found to have cancer. A positive association with prostate cancer was seen for 5 of 11 SNPs studied (rs1800629, rs1859962, rs1447295, rs4430796, rs11228565). The cancer detection rate rose with the number of SNP risk alleles from 29% for men with no variant to 63% for men who carried seven or more risk alleles (OR=4.2; p=0.002). The SNP data did not improve the predictive power of clinical factors (age, PSA and DRE) for detecting prostate cancer (AUC: 0.726 vs. 0.735; p=0.4). We were unable to define a group of men with a sufficiently low prevalence of prostate cancer that a biopsy might have been avoided. In conclusion, our data do not support the routine use of SNP polymorphisms as an adjunct test to be used on the context of prostate biopsy for Polish men with an abnormal screening test.

引用

页码：1139 / 1146

页数：8

共 35 条

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Gronwald, J. ;

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Kashyap, A. ;

Byrski, T. ;

Debniak, T. ;

Golab, A. ;

Gliniewicz, B. ;

Sikorski, A. ;

Switala, J. ;

Borkowski, T. ;

Borkowski, A. ;

Antczak, A. ;

Wojnar, L. ;

Przybya, J. ;

Sosnowski, M. ;

Malkiewicz, B. ;

Zdrojowy, R. ;

Sikorska-Radek, P. ;

Matych, J. ;

Wilkosz, J. ;

Rozanski, W. ;

Kis, J. ;

Bar, K. ;

Bryniarski, P. ;

Paradysz, A. ;

Jersak, K. ;

Niemirowicz, J. ;

Slupski, P. ;

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Meitz, J. ;

Falconer, A. ;

Osin, P. ;

Fisher, C. ;

Guy, M. ;

Jhavar, S. G. ;

Hall, A. L. ;

O'Brien, L. T. ;

Gehr-Swain, B. N. ;

Wilkinson, R. A. ;

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Ghoussaini, Maya ;

Luccarini, Craig ;

Dennis, Joe ;

Jugurnauth-Little, Sarah ;

Dadaev, Tokhir ;

Neal, David E. ;

Hamdy, Freddie C. ;

Donovan, Jenny L. ;

Muir, Ken ;

Giles, Graham G. ;

Severi, Gianluca ;

Wiklund, Fredrik ;

Gronberg, Henrik ;

Haiman, Christopher A. ;

Schumacher, Fredrick ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Lindstrom, Sara ;

Kraft, Peter ;

Hunter, David J. ;

Gapstur, Susan ;

Chanock, Stephen J. ;

Berndt, Sonja I. ;

Albanes, Demetrius ;

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Schleutker, Johanna ;

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Canzian, Federico ;

Riboli, Elio ;

Key, Tim J. ;

Travis, Ruth C. ;

Campa, Daniele ;

Ingles, Sue A. ;

John, Esther M. ;

Hayes, Richard B. ;

Pharoah, Paul D. P. ;

Pashayan, Nora ;

Khaw, Kay-Tee ;

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Guy, Michelle ;

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Hopper, John L. ;

Henderson, Brian E. ;

Haiman, Christopher A. ;

Schleutker, Johanna ;

Hamdy, Freddie C. ;

Neal, David E. ;

Donovan, Jenny L. ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Ingles, Sue A. ;

John, Esther M. ;

Thibodeau, Stephen N. ;

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Benediktsdottir, Kristrun R. ;

Magnusdottir, Droplaug N. ;

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← 1 2 3 4 →

共 35 条

[1] Multiple loci on 8q24 associated with prostate cancer susceptibility [J].

Al Olama, Ali Amin ;

Kote-Jarai, Zsofia ;

Giles, Graham G. ;

Guy, Michelle ;

Morrison, Jonathan ;

Severi, Gianluca ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Jhavar, Sameer ;

Saunders, Ed ;

Hopper, John L. ;

Southey, Melissa C. ;

Muir, Kenneth R. ;

English, Dallas R. ;

Dearnaley, David P. ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Sawyer, Emma ;

Lophatananon, Artitaya ;

Horwich, Alan ;

Huddart, Robert A. ;

Khoo, Vincent S. ;

Parker, Christopher C. ;

Woodhouse, Christopher J. ;

Thompson, Alan ;

Christmas, Tim ;

Ogden, Chris ;

Cooper, Colin ;

Donovan, Jenny L. ;

Hamdy, Freddie C. ;

Neal, David E. ;

Eeles, Rosalind A. ;

Easton, Douglas F. .

NATURE GENETICS, 2009, 41 (10) :1058-1060

[2] Polygenic Risk Score Improves Prostate Cancer Risk Prediction: Results from the Stockholm-1 Cohort Study [J].

Aly, Markus ;

Wiklund, Fredrik ;

Xu, Jianfeng ;

Isaacs, William B. ;

Eklund, Martin ;

D'Amato, Mauro ;

Adolfsson, Jan ;

Gronberg, Henrik .

EUROPEAN UROLOGY, 2011, 60 (01) :21-28

[3] A common variant associated with prostate cancer in European and African populations [J].

Amundadottir, Laufey T. ;

Sulem, Patrick ;

Gudmundsson, Julius ;

Helgason, Agnar ;

Baker, Adam ;

Agnarsson, Bjarni A. ;

Sigurdsson, Asgeir ;

Benediktsdottir, Kristrun R. ;

Cazier, Jean-Baptiste ;

Sainz, Jesus ;

Jakobsdottir, Margret ;

Kostic, Jelena ;

Magnusdottir, Droplaug N. ;

Ghosh, Shyamali ;

Agnarsson, Kari ;

Birgisdottir, Birgitta ;

Le Roux, Louise ;

Olafsdottir, Adalheidur ;

Blondal, Thorarinn ;

Andresdottir, Margret ;

Gretarsdottir, Olafia Svandis ;

Bergthorsson, Jon T. ;

Gudbjartsson, Daniel ;

Gylfason, Arnaldur ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Kristjansson, Kristleifur ;

Geirsson, Gudmundur ;

Isaksson, Helgi ;

Douglas, Julie ;

Johansson, Jan-Erik ;

Balter, Katarina ;

Wiklund, Fredrik ;

Montie, James E. ;

Yu, Xiaoying ;

Suarez, Brian K. ;

Ober, Carole ;

Cooney, Kathleen A. ;

Gronberg, Henrik ;

Catalona, William J. ;

Einarsson, Gudmundur V. ;

Barkardottir, Rosa B. ;

Gulcher, Jeffrey R. ;

Kong, Augustine ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2006, 38 (06) :652-658

[4] A personalised approach to prostate cancer screening based on genotyping of risk founder alleles [J].

Cybulski, C. ;

Wokolorczyk, D. ;

Kluzniak, W. ;

Kashyap, A. ;

Golab, A. ;

Slojewski, M. ;

Sikorski, A. ;

Puszynski, M. ;

Soczawa, M. ;

Borkowski, T. ;

Borkowski, A. ;

Antczak, A. ;

Przybyla, J. ;

Sosnowski, M. ;

Malkiewicz, B. ;

Zdrojowy, R. ;

Domagala, P. ;

Piotrowski, K. ;

Menkiszak, J. ;

Krzystolik, K. ;

Gronwald, J. ;

Jakubowska, A. ;

Gorski, B. ;

Debniak, T. ;

Masojc, B. ;

Huzarski, T. ;

Muir, K. R. ;

Lophatananon, A. ;

Lubinski, J. ;

Narod, S. A. .

BRITISH JOURNAL OF CANCER, 2013, 108 (12) :2601-2609

[5] An inherited NBN mutation is associated with poor prognosis prostate cancer [J].

Cybulski, C. ;

Wokolorczyk, D. ;

Kluzniak, W. ;

Jakubowska, A. ;

Gorski, B. ;

Gronwald, J. ;

Huzarski, T. ;

Kashyap, A. ;

Byrski, T. ;

Debniak, T. ;

Golab, A. ;

Gliniewicz, B. ;

Sikorski, A. ;

Switala, J. ;

Borkowski, T. ;

Borkowski, A. ;

Antczak, A. ;

Wojnar, L. ;

Przybya, J. ;

Sosnowski, M. ;

Malkiewicz, B. ;

Zdrojowy, R. ;

Sikorska-Radek, P. ;

Matych, J. ;

Wilkosz, J. ;

Rozanski, W. ;

Kis, J. ;

Bar, K. ;

Bryniarski, P. ;

Paradysz, A. ;

Jersak, K. ;

Niemirowicz, J. ;

Slupski, P. ;

Jarzemski, P. ;

Skrzypczyk, M. ;

Dobruch, J. ;

Domagala, P. ;

Narod, S. A. ;

Lubinski, J. .

BRITISH JOURNAL OF CANCER, 2013, 108 (02) :461-468

[6] Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis [J].

Edwards, S. M. ;

Evans, D. G. R. ;

Hope, Q. ;

Norman, A. R. ;

Barbachano, Y. ;

Bullock, S. ;

Kote-Jarai, Z. ;

Meitz, J. ;

Falconer, A. ;

Osin, P. ;

Fisher, C. ;

Guy, M. ;

Jhavar, S. G. ;

Hall, A. L. ;

O'Brien, L. T. ;

Gehr-Swain, B. N. ;

Wilkinson, R. A. ;

Forrest, M. S. ;

Dearnaley, D. P. ;

Ardern-Jones, A. T. ;

Page, E. C. ;

Easton, D. F. ;

Eeles, R. A. .

BRITISH JOURNAL OF CANCER, 2010, 103 (06) :918-924

[7] Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array [J].

Eeles, Rosalind A. ;

Al Olama, Ali Amin ;

Benlloch, Sara ;

Saunders, Edward J. ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Ghoussaini, Maya ;

Luccarini, Craig ;

Dennis, Joe ;

Jugurnauth-Little, Sarah ;

Dadaev, Tokhir ;

Neal, David E. ;

Hamdy, Freddie C. ;

Donovan, Jenny L. ;

Muir, Ken ;

Giles, Graham G. ;

Severi, Gianluca ;

Wiklund, Fredrik ;

Gronberg, Henrik ;

Haiman, Christopher A. ;

Schumacher, Fredrick ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Lindstrom, Sara ;

Kraft, Peter ;

Hunter, David J. ;

Gapstur, Susan ;

Chanock, Stephen J. ;

Berndt, Sonja I. ;

Albanes, Demetrius ;

Andriole, Gerald ;

Schleutker, Johanna ;

Weischer, Maren ;

Canzian, Federico ;

Riboli, Elio ;

Key, Tim J. ;

Travis, Ruth C. ;

Campa, Daniele ;

Ingles, Sue A. ;

John, Esther M. ;

Hayes, Richard B. ;

Pharoah, Paul D. P. ;

Pashayan, Nora ;

Khaw, Kay-Tee ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Signorello, Lisa B. ;

Thibodeau, Stephen N. ;

Schaid, Dan ;

Maier, Christiane .

NATURE GENETICS, 2013, 45 (04) :385-391

[8] Identification of seven new prostate cancer susceptibility loci through a genome-wide association study [J].

Eeles, Rosalind A. ;

Kote-Jarai, Zsofia ;

Al Olama, Ali Amin ;

Giles, Graham G. ;

Guy, Michelle ;

Severi, Gianluca ;

Muir, Kenneth ;

Hopper, John L. ;

Henderson, Brian E. ;

Haiman, Christopher A. ;

Schleutker, Johanna ;

Hamdy, Freddie C. ;

Neal, David E. ;

Donovan, Jenny L. ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Ingles, Sue A. ;

John, Esther M. ;

Thibodeau, Stephen N. ;

Schaid, Daniel ;

Park, Jong Y. ;

Spurdle, Amanda ;

Clements, Judith ;

Dickinson, Joanne L. ;

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