A patient-driven clinicogenomic partnership for metastatic prostate cancer

被引：1

作者：

Crowdis, Jett ^{[1
,2
]}

Balch, Sara ^{[1
,2
]}

Sterlin, Lauren ^{[2
,3
]}

Thomas, Beena S. ^{[2
,3
]}

Camp, Sabrina Y. ^{[1
,2
]}

Dunphy, Michael ^{[2
,3
]}

Anastasio, Elana ^{[2
,3
]}

Shah, Shahrayz ^{[2
,3
]}

Damon, Alyssa L. ^{[2
,3
]}

Ramos, Rafael ^{[1
,2
,3
]}

Sosa, Delia M. ^{[2
,3
]}

Small, Ilan K. ^{[2
,3
]}

Tomson, Brett N. ^{[2
,3
]}

Nguyen, Colleen M. ^{[2
,3
]}

Mcgillicuddy, Mary ^{[2
,3
]}

Chastain, Parker S. ^{[2
,3
]}

He, Meng Xiao ^{[1
,2
,4
]}

Cheung, Alexander T. M. ^{[2
,5
]}

Wankowicz, Stephanie ^{[6
,7
]}

Tewari, Alok K. ^{[1
]}

Kim, Dewey ^{[1
,2
]}

Aldubayan, Saud H. ^{[1
,2
,8
]}

Dowdye, Ayanah ^{[2
,3
]}

Zola, Benjamin ^{[2
,3
]}

Nowak, Joel ^{[9
]}

Manarite, Jan ^{[9
]}

Gunn, Idola Henry ^{[10
]}

Olson, Bryce ^{[11
]}

Lander, Eric S. ^{[2
,12
,13
]}

Painter, Corrie A. ^{[2
,3
]}

Wagle, Nikhil ^{[1
,2
,3
]}

Van Allen, Eliezer M. ^{[1
,2
,14
]}

机构：

[1] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[2] Broad Inst Harvard & MIT, Cambridge, MA 02142 USA

[3] Count Me In, Cambridge, MA 02142 USA

[4] Harvard Grad Program Biophys, Boston, MA 02115 USA

[5] NYU, Grossman Sch Med, New York, NY 10016 USA

[6] Univ Calif San Francisco, Biophys Grad Program, San Francisco, CA 94143 USA

[7] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA

[8] King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

[9] Canc ABCs, Brooklyn, NY 11201 USA

[10] MomVetWifeWidow Org, Santa Clara, CA USA

[11] SequenceMe, Intel Corp, Global Strategist Hlth & Life Sci, Santa Clara, CA 95054 USA

[12] MIT, Dept Biol, Cambridge, MA 02142 USA

[13] Harvard Med Sch, Dept Syst Biol, Boston, MA 02115 USA

[14] Dana Farber Canc Inst, Ctr Canc Genom, Boston, MA 02115 USA

来源：

CELL GENOMICS | 2022年 / 2卷 / 09期

基金：

美国国家科学基金会; 美国国家卫生研究院;

关键词：

CODING VARIANTS; ASSOCIATION; EXOME; RARE; LINKAGE; TRAITS; PCSK9;

D O I：

10.1016/j.xgen.2022.100169

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Molecular profiling studies have enabled discoveries for metastatic prostate cancer (MPC) but have predom-inantly occurred in academic medical institutions and involved non-representative patient populations. We established the Metastatic Prostate Cancer Project (MPCproject, mpcproject.org), a patient-partnered initia-tive to involve patients with MPC living anywhere in the US and Canada in molecular research. Here, we pre-sent results from our partnership with the first 706 MPCproject participants. While 41% of patient partners live in rural, physician-shortage, or medically underserved areas, the MPCproject has not yet achieved racial diversity, a disparity that demands new initiatives detailed herein. Among molecular data from 333 patient partners (572 samples), exome sequencing of 63 tumor and 19 cell-free DNA (cfDNA) samples recapitulated known findings in MPC, while inexpensive ultra-low-coverage sequencing of 318 cfDNA samples revealed clinically relevant AR amplifications. This study illustrates the power of a growing, longitudinal partnership with patients to generate a more representative understanding of MPC.

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