Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study

被引：8

作者：

Vlaming, Michiel ^{[1
]}

Bleiker, Eveline M. A. ^{[2
,3
,4
]}

van Oort, Inge M. M. ^{[5
]}

Kiemeney, Lambertus A. L. M. ^{[5
,6
]}

Ausems, Margreet G. E. M. ^{[1
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Genet, Div Labs Pharm & Biomed Genet, Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands

[2] Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Plesmanlaan 121, NL-1066 CX Amsterdam, Netherlands

[3] Leiden Univ, Dept Clin Genet, Med Ctr, Albinusdreef 2, NL-2333 ZA Leiden, Netherlands

[4] Netherlands Canc Inst, Family Canc Clin, Plesmanlaan 121, NL-1066 CX Amsterdam, Netherlands

[5] Radboud Univ Nijmegen Med Ctr, Dept Urol, Geert Grooteplein Zuid 10, NL-6525 GA Nijmegen, Netherlands

[6] Radboud Univ Nijmegen Med Ctr, Dept Hlth Evidence, Geert Grooteplein Zuid 21, NL-6525 EZ Nijmegen, Netherlands

来源：

BMC CANCER | 2022年 / 22卷 / 01期

关键词：

Prostate cancer; Mainstream genetic testing; Genetic counseling; Germline genetic testing; OVARIAN-CANCER; HEALTH-PROFESSIONALS; BREAST-CANCER; MUTATIONS; BRCA1; RISK; VALIDATION; KNOWLEDGE; RELATIVES;

D O I：

10.1186/s12885-022-10429-2

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background In international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard genetic care pathway, pre-test counseling is provided by a healthcare professional of a genetics department. Because the number of patients with metastatic prostate cancer is large, the capacity in the genetics departments might be insufficient. Therefore, we aim to implement so-called mainstream genetic testing in the Netherlands for patients with metastatic prostate cancer. In a mainstream genetic testing pathway, non-genetic healthcare professionals discuss and order germline genetic testing. In our DISCOVER study, we will assess the experiences among patients and non-genetic healthcare professionals with this new pathway. MethodsA multicenter prospective observational cohort study will be conducted in 15 hospitals, in different regions of the Netherlands. We developed an online training module on genetics in prostate cancer and the counseling of patients. After completion of this module, non-genetic healthcare professionals will provide pre-test counseling and order germline genetic testing in metastatic prostate cancer patients. Both non-genetic healthcare professionals and patients receive three questionnaires. We will determine the experience with mainstream genetic testing, based on satisfaction and acceptability. Patients with a pathogenic germline variant will also be interviewed. We will determine the efficacy of the mainstreaming pathway, based on time investment for non-genetic healthcare professionals and the prevalence of pathogenic germline variants. DiscussionThis study is intended to be one of the largest studies on mainstream genetic testing in prostate cancer. The results of this study can improve the mainstream genetic testing pathway in patients with prostate cancer.

引用

页数：9

共 61 条

[31] Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers [J].

Kuchenbaecker, Karoline B. ;

Hopper, John L. ;

Barnes, Daniel R. ;

Phillips, Kelly-Anne ;

Mooij, Thea M. ;

Roos-Blom, Marie-Jose ;

Jervis, Sarah ;

van Leeuwen, Flora E. ;

Milne, Roger L. ;

Andrieu, Nadine ;

Goldgar, David E. ;

Terry, Mary Beth ;

Rookus, Matti A. ;

Easton, Douglas F. ;

Antoniou, Antonis C. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2017, 317 (23) :2402-2416

[32]

Loeb Stacy, 2020, Cancer Treat Res Commun, V25, P100212, DOI 10.1016/j.ctarc.2020.100212

[33] Advanced Prostate Cancer: AUA/ASTRO/SUO Guideline PART I [J].

Lowrance, William T. ;

Breau, Rodney H. ;

Chou, Roger ;

Chapin, Brian F. ;

Crispino, Tony ;

Dreicer, Robert ;

Jarrard, David F. ;

Kibel, Adam S. ;

Morgan, Todd M. ;

Morgans, Alicia K. ;

Oh, William K. ;

Resnick, Matthew J. ;

Zietman, Anthony L. ;

Cookson, Michael S. .

JOURNAL OF UROLOGY, 2021, 205 (01) :14-21

[34] Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review [J].

Ludwig, Kandice K. ;

Neuner, Joan ;

Butler, Annabelle ;

Geurts, Jennifer L. ;

Kong, Amanda L. .

AMERICAN JOURNAL OF SURGERY, 2016, 212 (04) :660-669

[35] Mainstreamed genetic testing in ovarian cancer: patient experience of the testing process [J].

McLeavy, Laura ;

Rahman, Belinda ;

Kristeleit, Rebecca ;

Ledermann, Jonathan ;

Lockley, Michelle ;

McCormack, Mary ;

Mould, Tim ;

Side, Lucy ;

Lanceley, Anne .

INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER, 2020, 30 (02) :221-226

[36] Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants [J].

Momozawa, Yukihide ;

Sasai, Rumi ;

Usui, Yoshiaki ;

Shiraishi, Kouya ;

Iwasaki, Yusuke ;

Taniyama, Yukari ;

Parsons, Michael T. ;

Mizukami, Keijiro ;

Sekine, Yuya ;

Hirata, Makoto ;

Kamatani, Yoichiro ;

Endo, Mikiko ;

Inai, Chihiro ;

Takata, Sadaaki ;

Ito, Hidemi ;

Kohno, Takashi ;

Matsuda, Koichi ;

Nakamura, Seigo ;

Sugano, Kokichi ;

Yoshida, Teruhiko ;

Nakagawa, Hidewaki ;

Matsuo, Keitaro ;

Murakami, Yoshinori ;

Spurdle, Amanda B. ;

Kubo, Michiaki .

JAMA ONCOLOGY, 2022, 8 (06) :871-878

[37]

Mottet N., 2020, ESTRO-ESUR-SIOG guidelines on prostate cancer

[38] Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death [J].

Na, Rong ;

Zheng, S. Lilly ;

Han, Misop ;

Yu, Hongjie ;

Jiang, Deke ;

Shah, Sameep ;

Ewing, Charles M. ;

Zhang, Liti ;

Novakovic, Kristian ;

Petkewicz, Jacqueline ;

Gulukota, Kamalakar ;

Helseth, Donald L., Jr. ;

Quinn, Margo ;

Humphries, Elizabeth ;

Wiley, Kathleen E. ;

Isaacs, Sarah D. ;

Wu, Yishuo ;

Liu, Xu ;

Zhang, Ning ;

Wang, Chi-Hsiung ;

Khandekar, Janardan ;

Hulick, Peter J. ;

Shevrin, Daniel H. ;

Cooney, Kathleen A. ;

Shen, Zhoujun ;

Partin, Alan W. ;

Carter, H. Ballentine ;

Carducci, Michael A. ;

Eisenberger, Mario A. ;

Denmeade, Sam R. ;

McGuire, Michael ;

Walsh, Patrick C. ;

Helfand, Brian T. ;

Brendler, Charles B. ;

Ding, Qiang ;

Xu, Jianfeng ;

Isaacs, William B. .

EUROPEAN UROLOGY, 2017, 71 (05) :740-747

[39] Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer [J].

Nguyen-Dumont, Tu ;

Dowty, James G. ;

MacInnis, Robert J. ;

Steen, Jason A. ;

Riaz, Moeen ;

Dugue, Pierre-Antoine ;

Renault, Anne-Laure ;

Hammet, Fleur ;

Mahmoodi, Maryam ;

Theys, Derrick ;

Tsimiklis, Helen ;

Severi, Gianluca ;

Bolton, Damien ;

Lacaze, Paul ;

Sebra, Robert ;

Schadt, Eric ;

McNeil, John ;

Giles, Graham G. ;

Milne, Roger L. ;

Southey, Melissa C. .

CANCERS, 2021, 13 (07)

[40] Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines [J].

Nicolosi, Piper ;

Ledet, Elisa ;

Yang, Shan ;

Michalski, Scott ;

Freschi, Brandy ;

O'Leary, Erin ;

Esplin, Edward D. ;

Nussbaum, Robert L. ;

Sartor, Oliver .

JAMA ONCOLOGY, 2019, 5 (04) :523-528

← 1 2 3 4 5 6 7 →