Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.


Journal Article (Review)

Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing. There was strong consensus to test HOXB13 for suspected hereditary PCA, BRCA1/2 for suspected hereditary breast and ovarian cancer, and DNA mismatch repair genes for suspected Lynch syndrome. There was strong consensus to factor BRCA2 mutations into PCA screening discussions. BRCA2 achieved moderate consensus for factoring into early-stage management discussion, with stronger consensus in high-risk/advanced and metastatic setting. Agreement was moderate to test all men with metastatic castration-resistant PCA, regardless of family history, with stronger agreement to test BRCA1/2 and moderate agreement to test ATM to inform prognosis and targeted therapy. Conclusion To our knowledge, this is the first comprehensive, multidisciplinary consensus statement to address a genetic evaluation framework for inherited PCA in the multigene testing era. Future research should focus on developing a working definition of familial PCA for clinical genetic testing, expanding understanding of genetic contribution to aggressive PCA, exploring clinical use of genetic testing for PCA management, genetic testing of African American males, and addressing the value framework of genetic evaluation and testing men at risk for PCA-a clinically heterogeneous disease.

Full Text

Duke Authors

Cited Authors

  • Giri, VN; Knudsen, KE; Kelly, WK; Abida, W; Andriole, GL; Bangma, CH; Bekelman, JE; Benson, MC; Blanco, A; Burnett, A; Catalona, WJ; Cooney, KA; Cooperberg, M; Crawford, DE; Den, RB; Dicker, AP; Eggener, S; Fleshner, N; Freedman, ML; Hamdy, FC; Hoffman-Censits, J; Hurwitz, MD; Hyatt, C; Isaacs, WB; Kane, CJ; Kantoff, P; Karnes, RJ; Karsh, LI; Klein, EA; Lin, DW; Loughlin, KR; Lu-Yao, G; Malkowicz, SB; Mann, MJ; Mark, JR; McCue, PA; Miner, MM; Morgan, T; Moul, JW; Myers, RE; Nielsen, SM; Obeid, E; Pavlovich, CP; Peiper, SC; Penson, DF; Petrylak, D; Pettaway, CA; Pilarski, R; Pinto, PA; Poage, W; Raj, GV; Rebbeck, TR; Robson, ME; Rosenberg, MT; Sandler, H; Sartor, O; Schaeffer, E; Schwartz, GF; Shahin, MS; Shore, ND; Shuch, B; Soule, HR; Tomlins, SA; Trabulsi, EJ; Uzzo, R; Vander Griend, DJ; Walsh, PC; Weil, CJ; Wender, R; Gomella, LG

Published Date

  • February 1, 2018

Published In

Volume / Issue

  • 36 / 4

Start / End Page

  • 414 - 424

PubMed ID

  • 29236593

Pubmed Central ID

  • 29236593

Electronic International Standard Serial Number (EISSN)

  • 1527-7755

Digital Object Identifier (DOI)

  • 10.1200/JCO.2017.74.1173


  • eng

Conference Location

  • United States