Importance of genetic testing in prostate cancer

被引：0

作者：

Steinkellner, Lukas ^{[1
]}

Luger, Ferdinand ^{[1
]}

Loidl, Wolfgang ^{[1
]}

机构：

[1] Ordensklinikum Linz Elisabethinen, Abt Urol & Androl, Fadingerstr 1, A-4020 Linz, Austria

来源：

UROLOGIE | 2022年 / 61卷 / 12期

关键词：

Prostatic neoplasms; Molecular genetic diagnostics; Precision oncology; DNA repair genes; Poly(ADP-ribose) polymerase inhibitors; MUTATIONS; MEN;

D O I：

10.1007/s00120-022-01977-3

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Due to the increasing accessibility, molecular diagnostics are becoming more important in urology. There are validated predictive and prognostic biomarkers available for prostate cancer. This has clinical implications for screening diagnosis and personalized treatment options. The best known examples are mutations in the DNA damage repair genes breast cancer 1 (BRCA1) and BRCA2 for which the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib has been approved in 2020. This continuous progress enables a more tumor-specific and personalized treatment for prostate cancer. In order to provide this precision medicine, it is necessary to know the most important basic principles, have a close-knit interdisciplinary cooperation and access to a molecular tumor board due to the increased complexity.

引用

页码：1392 / 1396

页数：5

共 26 条

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Abeshouse, Adam ;

Ahn, Jaeil ;

Akbani, Rehan ;

Ally, Adrian ;

Amin, Samirkumar ;

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Annala, Matti ;

Aprikian, Armen ;

Armenia, Joshua ;

Arora, Arshi ;

Auman, J. Todd ;

Balasundaram, Miruna ;

Balu, Saianand ;

Barbieri, Christopher E. ;

Bauer, Thomas ;

Benz, Christopher C. ;

Bergeron, Alain ;

Beroukhim, Rameen ;

Berrios, Mario ;

Bivol, Adrian ;

Bodenheimer, Tom ;

Boice, Lori ;

Bootwalla, Moiz S. ;

dos Reis, Rodolfo Borges ;

Boutros, Paul C. ;

Bowen, Jay ;

Bowlby, Reanne ;

Boyd, Jeffrey ;

Bradley, Robert K. ;

Breggia, Anne ;

Brimo, Fadi ;

Bristow, Christopher A. ;

Brooks, Denise ;

Broom, Bradley M. ;

Bryce, Alan H. ;

Bubley, Glenn ;

Burks, Eric ;

Butterfield, Yaron S. N. ;

Button, Michael ;

Canes, David ;

Carlotti, Carlos G. ;

Carlsen, Rebecca ;

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Abida, Wassim ;

Patnaik, Akash ;

Campbell, David ;

Shapiro, Jeremy ;

Bryce, Alan H. ;

McDermott, Ray ;

Sautois, Brieuc ;

Vogelzang, Nicholas J. ;

Bambury, Richard M. ;

Voog, Eric ;

Zhang, Jingsong ;

Piulats, Josep M. ;

Ryan, Charles J. ;

Merseburger, Axel S. ;

Daugaard, Gedske ;

Heidenreich, Axel ;

Fizazi, Karim ;

Higano, Celestia S. ;

Krieger, Laurence E. ;

Sternberg, Cora N. ;

Watkins, Simon P. ;

Despain, Darrin ;

Simmons, Andrew D. ;

Loehr, Andrea ;

Dowson, Melanie ;

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Abida, Wassim ;

Cheng, Michael L. ;

Armenia, Joshua ;

Middha, Sumit ;

Autio, Karen A. ;

Vargas, Hebert Alberto ;

Rathkopf, Dana ;

Morris, Michael J. ;

Danila, Daniel C. ;

Slovin, Susan F. ;

Carbone, Emily ;

Barnett, Ethan S. ;

Hullings, Melanie ;

Hechtman, Jaclyn F. ;

Zehir, Ahmet ;

Shia, Jinru ;

Jonsson, Philip ;

Stadler, Zsofia K. ;

Srinivasan, Preethi ;

Laudone, Vincent P. ;

Reuter, Victor ;

Wolchok, Jedd D. ;

Socci, Nicholas D. ;

Taylor, Barry S. ;

Berger, Michael F. ;

Kantoff, Philip W. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Solit, David B. ;

Gopalan, Anuradha ;

Scher, Howard I. .

JAMA ONCOLOGY, 2019, 5 (04) :471-478

[4] Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making [J].

Abida, Wassim ;

Armenia, Joshua ;

Gopalan, Anuradha ;

Brennan, Ryan ;

Walsh, Michael ;

Barron, David ;

Danila, Daniel ;

Rathkopf, Dana ;

Morris, Michael ;

Slovin, Susan ;

McLaughlin, Brigit ;

Curtis, Kristen ;

Hyman, David M. ;

Durack, Jeremy C. ;

Solomon, Stephen B. ;

Arcila, Maria E. ;

Zehir, Ahmet ;

Syed, Aijazuddin ;

Gao, Jianjiong ;

Chakravarty, Debyani ;

Vargas, Hebert Alberto ;

Robson, Mark E. ;

Vijai, Joseph ;

Offit, Kenneth ;

Donoghue, Mark T. A. ;

Abeshouse, Adam A. ;

Kundra, Ritika ;

Heins, Zachary J. ;

Penson, Alexander V. ;

Harris, Christopher ;

Taylor, Barry S. ;

Ladanyi, Marc ;

Mandelker, Diana ;

Zhang, Liying ;

Reuter, Victor E. ;

Kantoff, Philip W. ;

Solit, David B. ;

Berger, Michael F. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Scher, Howard I. .

JCO PRECISION ONCOLOGY, 2017, 1 :1-26

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Kim, Jaegil ;

Haradhvala, Nicholas J. ;

Huang, Mi Ni ;

Ng, Alvin Wei Tian ;

Wu, Yang ;

Boot, Arnoud ;

Covington, Kyle R. ;

Gordenin, Dmitry A. ;

Bergstrom, Erik N. ;

Islam, S. M. Ashiqul ;

Lopez-Bigas, Nuria ;

Klimczak, Leszek J. ;

McPherson, John R. ;

Morganella, Sandro ;

Sabarinathan, Radhakrishnan ;

Wheeler, David A. ;

Mustonen, Ville ;

Getz, Gad ;

Rozen, Steven G. ;

Stratton, Michael R. .

NATURE, 2020, 578 (7793) :94-+

[6] Clinical and pathological features associated with circulating tumor DNA content in real-world patients with metastatic prostate cancer [J].

Antonarakis, Emmanuel S. ;

Tierno, Marni ;

Fisher, Virginia ;

Tukachinsky, Hanna ;

Alexander, Sonja ;

Hamdani, Omar ;

Hiemenz, Matthew C. ;

Huang, Richard S. P. ;

Oxnard, Geoffrey R. ;

Graf, Ryon P. .

PROSTATE, 2022, 82 (07) :867-875

[7] Comprehensive Analysis of Hypermutation in Human Cancer [J].

Campbell, Brittany B. ;

Light, Nicholas ;

Fabrizio, David ;

Zatzman, Matthew ;

Fuligni, Fabio ;

de Borja, Richard ;

Davidson, Scott ;

Edwards, Melissa ;

Elvin, Julia A. ;

Hodel, Karl P. ;

Zahurancik, Walter J. ;

Suo, Zucai ;

Lipman, Tatiana ;

Wimmer, Katharina ;

Kratz, Christian P. ;

Bowers, Daniel C. ;

Laetsch, Theodore W. ;

Dunn, Gavin P. ;

Johanns, Tanner M. ;

Grimmer, Matthew R. ;

Smirnov, Ivan V. ;

Larouche, Valerie ;

Samuel, David ;

Bronsema, Annika ;

Osborn, Michael ;

Stearns, Duncan ;

Raman, Pichai ;

Cole, Kristina A. ;

Storm, Phillip B. ;

Yalon, Michal ;

Opocher, Enrico ;

Mason, Gary ;

Thomas, Gregory A. ;

Sabel, Magnus ;

George, Ben ;

Ziegler, David S. ;

Lindhorst, Scott ;

Issai, Vanan Magimairajan ;

Constantini, Shlomi ;

Toledano, Helen ;

Elhasid, Ronit ;

Farah, Roula ;

Dvir, Rina ;

Dirks, Peter ;

Huang, Annie ;

Galati, Melissa A. ;

Chung, Jiil ;

Ramaswamy, Vijay ;

Irwin, Meredith S. ;

Aronson, Melyssa .

CELL, 2017, 171 (05) :1042-+

[8] Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer [J].

Castro, Elena ;

Goh, Chee ;

Olmos, David ;

Saunders, Ed ;

Leongamornlert, Daniel ;

Tymrakiewicz, Malgorzata ;

Mahmud, Nadiya ;

Dadaev, Tokhir ;

Govindasami, Koveela ;

Guy, Michelle ;

Sawyer, Emma ;

Wilkinson, Rosemary ;

Ardern-Jones, Audrey ;

Ellis, Steve ;

Frost, Debra ;

Peock, Susan ;

Evans, D. Gareth ;

Tischkowitz, Marc ;

Cole, Trevor ;

Davidson, Rosemarie ;

Eccles, Diana ;

Brewer, Carole ;

Douglas, Fiona ;

Porteous, Mary E. ;

Donaldson, Alan ;

Dorkins, Huw ;

Izatt, Louise ;

Cook, Jackie ;

Hodgson, Shirley ;

Kennedy, M. John ;

Side, Lucy E. ;

Eason, Jacqueline ;

Murray, Alex ;

Antoniou, Antonis C. ;

Easton, Douglas F. ;

Kote-Jarai, Zsofia ;

Eeles, Rosalind .

JOURNAL OF CLINICAL ONCOLOGY, 2013, 31 (14) :1748-+

[9] Concordance of BRCA1, BRCA2 (BRCA), and ATM mutations identified in matched tumor tissue and circulating tumor DNA (ctDNA) in men with metastatic castration-resistant prostate cancer (mCRPC) screened in the PROfound study. [J].

Chi, Kim N. ;

Barnicle, Alan ;

Sibilla, Caroline ;

Lai Zhongwu ;

Corcoran, Claire ;

Williams, Andrew J. ;

Barrett, Carl J. ;

Adelman, Carrie A. ;

Qiu Ping ;

Easter, Ashley ;

Dearden, Simon ;

Harrington, Elizabeth .

JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (06)

[10] Olaparib for Metastatic Castration-Resistant Prostate Cancer [J].

de Bono, J. ;

Mateo, J. ;

Fizazi, K. ;

Saad, F. ;

Shore, N. ;

Sandhu, S. ;

Chi, K. N. ;

Sartor, O. ;

Agarwal, N. ;

Olmos, D. ;

Thiery-Vuillemin, A. ;

Twardowski, P. ;

Mehra, N. ;

Goessl, C. ;

Kang, J. ;

Burgents, J. ;

Wu, W. ;

Kohlmann, A. ;

Adelman, C. A. ;

Hussain, M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2020, 382 (22) :2091-2102

← 1 2 3 →

共 26 条

[1] The Molecular Taxonomy of Primary Prostate Cancer [J].

Abeshouse, Adam ;

Ahn, Jaeil ;

Akbani, Rehan ;

Ally, Adrian ;

Amin, Samirkumar ;

Andry, Christopher D. ;

Annala, Matti ;

Aprikian, Armen ;

Armenia, Joshua ;

Arora, Arshi ;

Auman, J. Todd ;

Balasundaram, Miruna ;

Balu, Saianand ;

Barbieri, Christopher E. ;

Bauer, Thomas ;

Benz, Christopher C. ;

Bergeron, Alain ;

Beroukhim, Rameen ;

Berrios, Mario ;

Bivol, Adrian ;

Bodenheimer, Tom ;

Boice, Lori ;

Bootwalla, Moiz S. ;

dos Reis, Rodolfo Borges ;

Boutros, Paul C. ;

Bowen, Jay ;

Bowlby, Reanne ;

Boyd, Jeffrey ;

Bradley, Robert K. ;

Breggia, Anne ;

Brimo, Fadi ;

Bristow, Christopher A. ;

Brooks, Denise ;

Broom, Bradley M. ;

Bryce, Alan H. ;

Bubley, Glenn ;

Burks, Eric ;

Butterfield, Yaron S. N. ;

Button, Michael ;

Canes, David ;

Carlotti, Carlos G. ;

Carlsen, Rebecca ;

Carmel, Michel ;

Carroll, Peter R. ;

Carter, Scott L. ;

Cartun, Richard ;

Carver, Brett S. ;

Chan, June M. ;

Chang, Matthew T. ;

Chen, Yu .

CELL, 2015, 163 (04) :1011-1025

[2] Rucaparib in Men With Metastatic Castration-Resistant Prostate Cancer Harboring a BRCA1 or BRCA2 Gene Alteration [J].

Abida, Wassim ;

Patnaik, Akash ;

Campbell, David ;

Shapiro, Jeremy ;

Bryce, Alan H. ;

McDermott, Ray ;

Sautois, Brieuc ;

Vogelzang, Nicholas J. ;

Bambury, Richard M. ;

Voog, Eric ;

Zhang, Jingsong ;

Piulats, Josep M. ;

Ryan, Charles J. ;

Merseburger, Axel S. ;

Daugaard, Gedske ;

Heidenreich, Axel ;

Fizazi, Karim ;

Higano, Celestia S. ;

Krieger, Laurence E. ;

Sternberg, Cora N. ;

Watkins, Simon P. ;

Despain, Darrin ;

Simmons, Andrew D. ;

Loehr, Andrea ;

Dowson, Melanie ;

Golsorkhi, Tony ;

Chowdhury, Simon .

JOURNAL OF CLINICAL ONCOLOGY, 2020, 38 (32) :3763-+

[3] Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade [J].

Abida, Wassim ;

Cheng, Michael L. ;

Armenia, Joshua ;

Middha, Sumit ;

Autio, Karen A. ;

Vargas, Hebert Alberto ;

Rathkopf, Dana ;

Morris, Michael J. ;

Danila, Daniel C. ;

Slovin, Susan F. ;

Carbone, Emily ;

Barnett, Ethan S. ;

Hullings, Melanie ;

Hechtman, Jaclyn F. ;

Zehir, Ahmet ;

Shia, Jinru ;

Jonsson, Philip ;

Stadler, Zsofia K. ;

Srinivasan, Preethi ;

Laudone, Vincent P. ;

Reuter, Victor ;

Wolchok, Jedd D. ;

Socci, Nicholas D. ;

Taylor, Barry S. ;

Berger, Michael F. ;

Kantoff, Philip W. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Solit, David B. ;

Gopalan, Anuradha ;

Scher, Howard I. .

JAMA ONCOLOGY, 2019, 5 (04) :471-478

[4] Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making [J].

Abida, Wassim ;

Armenia, Joshua ;

Gopalan, Anuradha ;

Brennan, Ryan ;

Walsh, Michael ;

Barron, David ;

Danila, Daniel ;

Rathkopf, Dana ;

Morris, Michael ;

Slovin, Susan ;

McLaughlin, Brigit ;

Curtis, Kristen ;

Hyman, David M. ;

Durack, Jeremy C. ;

Solomon, Stephen B. ;

Arcila, Maria E. ;

Zehir, Ahmet ;

Syed, Aijazuddin ;

Gao, Jianjiong ;

Chakravarty, Debyani ;

Vargas, Hebert Alberto ;

Robson, Mark E. ;

Vijai, Joseph ;

Offit, Kenneth ;

Donoghue, Mark T. A. ;

Abeshouse, Adam A. ;

Kundra, Ritika ;

Heins, Zachary J. ;

Penson, Alexander V. ;

Harris, Christopher ;

Taylor, Barry S. ;

Ladanyi, Marc ;

Mandelker, Diana ;

Zhang, Liying ;

Reuter, Victor E. ;

Kantoff, Philip W. ;

Solit, David B. ;

Berger, Michael F. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Scher, Howard I. .

JCO PRECISION ONCOLOGY, 2017, 1 :1-26

[5] The repertoire of mutational signatures in human cancer [J].

Alexandrov, Ludmil B. ;

Kim, Jaegil ;

Haradhvala, Nicholas J. ;

Huang, Mi Ni ;

Ng, Alvin Wei Tian ;

Wu, Yang ;

Boot, Arnoud ;

Covington, Kyle R. ;

Gordenin, Dmitry A. ;

Bergstrom, Erik N. ;

Islam, S. M. Ashiqul ;

Lopez-Bigas, Nuria ;

Klimczak, Leszek J. ;

McPherson, John R. ;

Morganella, Sandro ;

Sabarinathan, Radhakrishnan ;

Wheeler, David A. ;

Mustonen, Ville ;

Getz, Gad ;

Rozen, Steven G. ;

Stratton, Michael R. .

NATURE, 2020, 578 (7793) :94-+

[6] Clinical and pathological features associated with circulating tumor DNA content in real-world patients with metastatic prostate cancer [J].

Antonarakis, Emmanuel S. ;

Tierno, Marni ;

Fisher, Virginia ;

Tukachinsky, Hanna ;

Alexander, Sonja ;

Hamdani, Omar ;

Hiemenz, Matthew C. ;

Huang, Richard S. P. ;

Oxnard, Geoffrey R. ;

Graf, Ryon P. .

PROSTATE, 2022, 82 (07) :867-875

[7] Comprehensive Analysis of Hypermutation in Human Cancer [J].

Campbell, Brittany B. ;

Light, Nicholas ;

Fabrizio, David ;

Zatzman, Matthew ;

Fuligni, Fabio ;

de Borja, Richard ;

Davidson, Scott ;

Edwards, Melissa ;

Elvin, Julia A. ;

Hodel, Karl P. ;

Zahurancik, Walter J. ;

Suo, Zucai ;

Lipman, Tatiana ;

Wimmer, Katharina ;

Kratz, Christian P. ;

Bowers, Daniel C. ;

Laetsch, Theodore W. ;

Dunn, Gavin P. ;

Johanns, Tanner M. ;

Grimmer, Matthew R. ;

Smirnov, Ivan V. ;

Larouche, Valerie ;

Samuel, David ;

Bronsema, Annika ;

Osborn, Michael ;

Stearns, Duncan ;

Raman, Pichai ;

Cole, Kristina A. ;

Storm, Phillip B. ;

Yalon, Michal ;

Opocher, Enrico ;

Mason, Gary ;

Thomas, Gregory A. ;

Sabel, Magnus ;

George, Ben ;

Ziegler, David S. ;

Lindhorst, Scott ;

Issai, Vanan Magimairajan ;

Constantini, Shlomi ;

Toledano, Helen ;

Elhasid, Ronit ;

Farah, Roula ;

Dvir, Rina ;

Dirks, Peter ;

Huang, Annie ;

Galati, Melissa A. ;

Chung, Jiil ;

Ramaswamy, Vijay ;

Irwin, Meredith S. ;

Aronson, Melyssa .

CELL, 2017, 171 (05) :1042-+

[8] Germline BRCA Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer [J].

Castro, Elena ;

Goh, Chee ;

Olmos, David ;

Saunders, Ed ;

Leongamornlert, Daniel ;

Tymrakiewicz, Malgorzata ;

Mahmud, Nadiya ;

Dadaev, Tokhir ;

Govindasami, Koveela ;

Guy, Michelle ;

Sawyer, Emma ;

Wilkinson, Rosemary ;

Ardern-Jones, Audrey ;

Ellis, Steve ;

Frost, Debra ;

Peock, Susan ;

Evans, D. Gareth ;

Tischkowitz, Marc ;

Cole, Trevor ;

Davidson, Rosemarie ;

Eccles, Diana ;

Brewer, Carole ;

Douglas, Fiona ;

Porteous, Mary E. ;

Donaldson, Alan ;

Dorkins, Huw ;

Izatt, Louise ;

Cook, Jackie ;

Hodgson, Shirley ;

Kennedy, M. John ;

Side, Lucy E. ;

Eason, Jacqueline ;

Murray, Alex ;

Antoniou, Antonis C. ;

Easton, Douglas F. ;

Kote-Jarai, Zsofia ;

Eeles, Rosalind .

JOURNAL OF CLINICAL ONCOLOGY, 2013, 31 (14) :1748-+

Chi, Kim N. ;

Barnicle, Alan ;

Sibilla, Caroline ;

Lai Zhongwu ;

Corcoran, Claire ;

Williams, Andrew J. ;

Barrett, Carl J. ;

Adelman, Carrie A. ;

Qiu Ping ;

Easter, Ashley ;

Dearden, Simon ;

Harrington, Elizabeth .

JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (06)

[10] Olaparib for Metastatic Castration-Resistant Prostate Cancer [J].

de Bono, J. ;

Mateo, J. ;

Fizazi, K. ;

Saad, F. ;

Shore, N. ;

Sandhu, S. ;

Chi, K. N. ;

Sartor, O. ;

Agarwal, N. ;

Olmos, D. ;

Thiery-Vuillemin, A. ;

Twardowski, P. ;

Mehra, N. ;

Goessl, C. ;

Kang, J. ;

Burgents, J. ;

Wu, W. ;

Kohlmann, A. ;

Adelman, C. A. ;

Hussain, M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2020, 382 (22) :2091-2102

← 1 2 3 →