The Metastatic Breast Cancer Project: A national direct-to-patient initiative to accelerate genomics research.

Authors

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Nikhil Wagle

Dana-Farber Cancer Institute, Boston, MA

Nikhil Wagle , Corrie Painter , Max Krevalin , Coyin Oh , Kristin Anderka , Katie Larkin , Niall Lennon , Deborah Dillon , Elizabeth Frank , Eric P. Winer , Eric Lander , Todd Golub

Organizations

Dana-Farber Cancer Institute, Boston, MA, Broad Institute, Cambridge, MA

Research Funding

Other

Background: The challenge in studying tumors from patients (pts) with metastatic breast cancer (MBC) has been that most tumors are not available for research, largely because most pts are cared for in community settings where genomics studies are not conducted. To address this, we launched a nationwide study, The Metastatic Breast Cancer Project, which seeks to empower patients to accelerate research by sharing their samples and clinical information. Methods: In collaboration with pts and advocacy groups, we developed a website to allow MBC pts to participate across the U.S. Enrolled pts are sent a saliva kit and asked to mail back a saliva sample, which is used to extract germline DNA. We contact participants’ medical providers and obtain medical records and part of their tumor biopsy. Whole exome and transcriptome sequencing is performed on tumor and germline. Clinically annotated genomic data are used to identify mechanisms of response and resistance to therapies. The database is shared widely with researchers. Study updates and discoveries are shared with participants regularly. Results: In the first 3 months, 1227 MBC pts enrolled. 1178 (96%) completed the 16-question survey about their cancer and treatments. Median age was 54 years (yrs) (range 25-91). Median time between initial diagnosis (dx) of breast cancer and MBC was 2 yrs; 424 pts were dx’d with de novo MBC. 1022 (87%) reported having a biopsy at or following their dx of MBC. Median time since MBC dx was 3 yrs; 87 reported having MBC >10 yrs. 436 (37%) reported being on a therapy for >2 yrs; 672 (57%) reported an “extraordinary response” to a therapy. For example, 77 reported long and/or extraordinary responses to capecitabine ; 44 to platinums, and 20 to everolimus. Initial medical records, saliva, and tumors have been received. Conclusions: A direct-to-patient approach enabled rapid identification of large numbers of MBC pts willing to share tumors, saliva, and medical records. This includes many with rare phenotypes, a group that has been challenging to identify with traditional approaches. Genomic analysis of pts with extraordinary responses and with de novo MBC are underway. Pt reported data has also identified unanticipated research questions.

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Abstract Details

Meeting

2016 ASCO Annual Meeting

Session Type

Poster Discussion Session

Session Title

Cancer Prevention, Genetics, and Epidemiology

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Etiology/Epidemiology

Citation

J Clin Oncol 34, 2016 (suppl; abstr LBA1519)

DOI

10.1200/JCO.2016.34.18_suppl.LBA1519

Abstract #

LBA1519

Poster Bd #

342

Abstract Disclosures