Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications
作者： Andreia Brandão , Paula Paulo , Manuel R. Teixeira
DOI: 10.3390/IJMS21145036
关键词:
摘要: Prostate cancer (PrCa) ranks among the top five cancers for both incidence and mortality worldwide. A significant proportion of PrCa susceptibility has been attributed to inherited predisposition, with 10–20% cases expected occur in a hereditary/familial context. Advances DNA sequencing technologies have uncovered several moderate- high-penetrance genes, most which previously related known hereditary syndromes, namely breast ovarian (BRCA1, BRCA2, ATM, CHEK2, PALB2) Lynch syndrome (MLH1, MSH2, MSH6, PMS2) genes. Additional candidate genes also suggested, but further evidence is needed include them routine genetic testing. Recommendations based on clinical features, family history, ethnicity established more cost-efficient testing patients families who may be at an increased risk developing PrCa. The identification alterations predisposing help inform screening strategies, as well treatment options, metastatic setting. This review provides overview basis underlying predisposition PrCa, current recommendations, implications management disease.
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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
Sofia Maia, Marta Cardoso, Paula Paulo, Manuela Pinheiro, Pedro Pinto, Catarina Santos, Carla Pinto, Ana Peixoto, Rui Henrique, Manuel R. Teixeira, The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer Familial Cancer. ,vol. 15, pp. 111- 121 ,(2016) , 10.1007/S10689-015-9832-X
Madhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, Jane Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M. Lubin, Christine E. Miller, Lainie F. Ross, Paul G. Rothberg, Alice K. Tanner, Patrik Vitazka, Rong Mao, Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology. The Journal of Molecular Diagnostics. ,vol. 17, pp. 107- 117 ,(2015) , 10.1016/J.JMOLDX.2014.10.004
Dan Robinson, Eliezer M Van Allen, Yi-Mi Wu, Nikolaus Schultz, Robert J Lonigro, Juan-Miguel Mosquera, Bruce Montgomery, Mary-Ellen Taplin, Colin C Pritchard, Gerhardt Attard, Himisha Beltran, Wassim Abida, Robert K Bradley, Jake Vinson, Xuhong Cao, Pankaj Vats, Lakshmi P Kunju, Maha Hussain, Felix Y Feng, Scott A Tomlins, Kathleen A Cooney, David C Smith, Christine Brennan, Javed Siddiqui, Rohit Mehra, Yu Chen, Dana E Rathkopf, Michael J Morris, Stephen B Solomon, Jeremy C Durack, Victor E Reuter, Anuradha Gopalan, Jianjiong Gao, Massimo Loda, Rosina T Lis, Michaela Bowden, Stephen P Balk, Glenn Gaviola, Carrie Sougnez, Manaswi Gupta, Y Yu Evan, Elahe A Mostaghel, Heather H Cheng, Hyojeong Mulcahy, Lawrence D True, Stephen R Plymate, Heidi Dvinge, Roberta Ferraldeschi, Penny Flohr, Susana Miranda, Zafeiris Zafeiriou, Nina Tunariu, Joaquin Mateo, Raquel Perez-Lopez, Francesca Demichelis, Brian D Robinson, Marc Schiffman, David M Nanus, Scott T Tagawa, Alexandros Sigaras, Kenneth W Eng, Olivier Elemento, Andrea Sboner, Elisabeth I Heath, Howard I Scher, Kenneth J Pienta, Philip Kantoff, Johann S De Bono, Mark A Rubin, Peter S Nelson, Levi A Garraway, Charles L Sawyers, Arul M Chinnaiyan, None, Integrative clinical genomics of advanced prostate cancer Cell. ,vol. 161, pp. 1215- 1228 ,(2015) , 10.1016/J.CELL.2015.05.001
Sofia Maia, Marta Cardoso, Pedro Pinto, Manuela Pinheiro, Catarina Santos, Ana Peixoto, Maria José Bento, Jorge Oliveira, Rui Henrique, Carmen Jerónimo, Manuel R. Teixeira, Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients PLOS ONE. ,vol. 10, pp. e0132728- ,(2015) , 10.1371/JOURNAL.PONE.0132728
Ying Han, Lisa B. Signorello, Sara S. Strom, Rick A. Kittles, Benjamin A. Rybicki, Janet L. Stanford, Phyllis J. Goodman, Sonja I. Berndt, John Carpten, Graham Casey, Lisa Chu, David V. Conti, Kristin A. Rand, W. Ryan Diver, Anselm J.M. Hennis, Esther M. John, Adam S. Kibel, Eric A. Klein, Suzanne Kolb, Loic Le Marchand, M. Cristina Leske, Adam B. Murphy, Christine Neslund-Dudas, Jong Y. Park, Curtis Pettaway, Timothy R. Rebbeck, Susan M. Gapstur, S. Lilly Zheng, Suh-Yuh Wu, John S. Witte, Jianfeng Xu, William Isaacs, Sue A. Ingles, Ann Hsing, Douglas F. Easton, Rosalind A. Eeles, Fredrick R. Schumacher, Stephen Chanock, Barbara Nemesure, William J. Blot, Daniel O. Stram, Brian E. Henderson, Christopher A. Haiman, , , Generalizability of established prostate cancer risk variants in men of African ancestry International Journal of Cancer. ,vol. 136, pp. 1210- 1217 ,(2015) , 10.1002/IJC.29066
Huajie Bu, Narisu Narisu, Bettina Schlick, Johannes Rainer, Thomas Manke, Georg Schäfer, Lorenza Pasqualini, Peter Chines, Michal R. Schweiger, Christian Fuchsberger, Helmut Klocker, Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites Human Mutation. ,vol. 37, pp. 52- 64 ,(2016) , 10.1002/HUMU.22909
Robert Szulkin, Robert Karlsson, Thomas Whitington, Markus Aly, Henrik Gronberg, Rosalind A. Eeles, Douglas F. Easton, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G. Giles, Melissa C. Southey, Liesel M. FitzGerald, Brian E. Henderson, Fredrick R. Schumacher, Christopher A. Haiman, Csilla Sipeky, Teuvo L.J. Tammela, Børge G. Nordestgaard, Timothy J. Key, Ruth C. Travis, David E. Neal, Jenny L. Donovan, Freddie C. Hamdy, Paul D.P. Pharoah, Nora Pashayan, Kay-Tee Khaw, Janet L. Stanford, Stephen N. Thibodeau, Shannon K. McDonnell, Daniel J. Schaid, Christiane Maier, Walther Vogel, Manuel Luedeke, Kathleen Herkommer, Adam S. Kibel, Cezary Cybulski, Jan Lubiński, Wojciech Kluźniak, Lisa Cannon-Albright, Hermann Brenner, Volker Herrmann, Bernd Holleczek, Jong Y. Park, Thomas A. Sellers, Hui-Yi Lim, Chavdar Slavov, Radka P. Kaneva, Vanio I. Mitev, Amanda Spurdle, Manuel R. Teixeira, Paula Paulo, Sofia Maia, Hardev Pandha, Agnieszka Michael, Andrzej Kierzek, Jyotsna Batra, Judith A. Clements, Demetrius Albanes, Gerald L. Andriole, Sonja I. Berndt, Stephen Chanock, Susan M. Gapstur, Edward L. Giovannucci, David J. Hunter, Peter Kraft, Loic Le Marchand, Jing Ma, Alison M. Mondul, Kathryn L. Penney, Meir J. Stampfer, Victoria L. Stevens, Stephanie J. Weinstein, Antonia Trichopoulou, Bas H. Bueno-de-Mesquita, Anne Tjønneland, David G. Cox, Lovise Maehle, Johanna Schleutker, Sara Lindström, Fredrik Wiklund, , , , Genome-Wide Association Study of Prostate Cancer–Specific Survival Cancer Epidemiology, Biomarkers & Prevention. ,vol. 24, pp. 1796- 1800 ,(2015) , 10.1158/1055-9965.EPI-15-0543
Luca Livraghi, Judy E. Garber, PARP inhibitors in the management of breast cancer: current data and future prospects. BMC Medicine. ,vol. 13, pp. 188- 188 ,(2015) , 10.1186/S12916-015-0425-1
Jacqueline Mersch, Michelle A. Jackson, Minjeong Park, Denise Nebgen, Susan K. Peterson, Claire Singletary, Banu K. Arun, Jennifer K. Litton, Cancers Associated with BRCA1 and BRCA2 Mutations other than Breast and Ovarian Cancer. ,vol. 121, pp. 269- 275 ,(2015) , 10.1002/CNCR.29041