EVIDENCE.
A female patient. Metastatic colorectal adenocarcinoma.
35 mutations across 9 genes. The system identified APC biallelic inactivation as the founding event and reconstructed
the full Vogelstein sequence automatically.
Three novel findings surfaced. A TMB-high MSI-high signature flagged as clinically significant for immunotherapy. A MYOD1
mutation that should not exist in a colorectal tumor. A CTNNB1 mutation co-occurring with biallelic APC loss — two events the
literature calls mutually exclusive.
Each finding structured as a testable hypothesis with a specific
validation path.
Reconstructed from one patient's data. Methodology validated across thousands of samples, individual to cohort level. Publications available upon request.
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