Abstract PD8-01: The metastatic breast cancer project: Generating the clinical and genomic landscape of metastatic breast cancer through patient-partnered research

• Published in: Cancer research (Chicago, Ill.) Ill.), 2020-02, Vol.80 (4_Supplement), p.PD8-01-PD8-01
• Main Authors: Wagle, Nikhil, Painter, Corrie, Anastasio, Elana, Dunphy, Michael, McGillicuddy, Mary, Jain, Esha, Hernandez, Tania G, Balch, Sara, Thomas, Beena, Kim, Dewey, Damon, Alyssa L., Shah, Shahrayz, Tomson, Brett N., Stoddard, Rachel, Nguyen, Colleen, Buendia-Buendia, Jorge, Cohen, Ofir, Zanudo, Jorge Gomez Tejeda, Tsegai, Netsanet, Sterlin, Lauren, Ulysse, Ulcha Fergie, Sine, Kathryn, Alao, Oyin, Lucia, Jacqueline, Lander, Eric S., Golub, Todd R.
• Format: Article
• Language: English
• ISSN: 0008-5472; 1538-7445
• DOI: 10.1158/1538-7445.SABCS19-PD8-01

Background: The Metastatic Breast Cancer Project (MBCproject) is a research study that directly engages patients (pts) through social media and advocacy groups, and empowers them to share their samples, clinical information, and experiences. The goal is to create a publicly available dataset of linked genomic, clinical, and pt-reported data to enable research. Methods: In collaboration with pts, advocates, and advocacy groups, a website (MBCproject.org) was developed that allows pts with metastatic breast cancer (MBC) anywhere in the U.S. or Canada to register. Registered pts are sent an online consent form that asks for permission to obtain and analyze their medical records and samples. Once enrolled, pts are sent a saliva kit and a blood kit and asked to mail back a saliva sample, which is used to extract germline DNA, and/or a blood sample, which is used to extract germline DNA and cell free DNA (cfDNA). We contact participants’ medical providers and obtain medical records and a portion of their stored tumor biopsies. Whole exome sequencing (WES) is performed on tumor DNA, germline DNA, and cfDNA; transcriptome sequencing (RNA-seq) is performed on tumor RNA. Medical records and pt-reported data are abstracted to create a detailed clinical record for each pt. All de-identified data are shared regularly via public databases (cbioportal.org, mbcproject.org, dbGaP, NCI Genomic Data Commons) without restrictions. Study updates are shared with participants regularly. Results: From 10/20/15-7/8/19, 5357 women and men with MBC registered. 3290 pts receiving care at over 1700 different institutions consented to share medical records and tumor/saliva/blood samples, and to have genomic analysis performed. Details of clinical data collection, biospecimen acquisition, and genomic data generation to date are outlined in the Table. WES from 463 tumors obtained from 326 pts have been generated (with matched germline WES), including 61 pts with 2 timepoints, 19 pts w 3 timepoints, and 11 pts w 4+ timepoints. 278 tumor exomes were from the breast/regional lymph nodes, 63 from distant metastatic sites and 122 from cfDNA. 110 tumor exomes were from samples obtained before the diagnosis of MBC, 258 from after the diagnosis of MBC, and 95 to be determined (TBD). 161 tumor exomes were obtained prior to any therapy, 204 following some therapy, and 98 TBD. Clinically annotated genomic data are used to study specific pt cohorts (including rare subsets and outliers) and to identi