I'm working with the GENIE BPC Breast Cancer v1.0-public release and would like to compare genomic alterations across metastatic sites. I've hit a limitation I'd like to check with you before designing around it. My central question is "What was the metastatic site from which the sample was taken for sequencing?" As far as I can tell, the anatomical site of the tissue that was actually sequenced is not resolvable at organ level in this release: - cancer_panel_test_level_dataset.csv :: sample_type takes only five values (Primary tumor, Metastasis site unspecified, Lymph node metastasis, Local recurrence, Not applicable/heme) - data_clinical_sample.txt :: SAMPLE_TYPE_DETAILED carries the same five categories So a sample from a liver biopsy and one from a brain biopsy are both simply "Metastasis site unspecified." Three questions: 1. Is the specimen site of sample which was sequence captured anywhere else in the release? I've tried joining cancer_panel_test_level_dataset.csv to pathology_report_level_dataset.csv on path_proc_number / path_rep_number to recover the ICD-O-3 topography in path_site1-45. Is that the intended linkage, and is the resulting site reliable as the site of the sequenced tissue rather than of any specimen in that report? 2. If not, is organ-level specimen site available in the consortium (non-public) release, or through a separate data request? 3. Is there someone in the consortium I can reach out to resolve this query? Thanks very much for any guidance. Best regards, Adnan

Created by Syed Adnan Ali syedadnan.ali
Hi Adnan,   Thank you for reaching out and for your interest in BPC BrCa dataset.    Unfortunately, we do not have the granularity in the data to determine which specimen from the pathology report was ultimately sent for sequencing. As you note, the pathology report linkage is possible, but it is only report-level when joining the cancer_panel_test_level_dataset.csv to pathology_report_level_dataset.csv using: •            cohort  •            record_id  •            path_proc_number  •            path_rep_number   We’ve received this question in the past, and a potential “work around” was shared within a Synapse discussion board which can be found here: https://www.synapse.org/Synapse:syn7222066/discussion/threadId=11815   We hope that this is helpful.   Please email genieinfo@aacr.org if you have any additional questions.

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