MSKCC Colorectal Adenocarcinoma Triplets

Overview

69 matched patient trios (primary tumor, metastasis, and normal tissue) from microsatellite-stable colorectal cancer patients at Memorial Sloan Kettering Cancer Center. All patients were MSS; 62/69 (90%) presented at stage IV. Raw data deposited in dbGaP phs000790.v1.p1. The cohort was designed to assess primary-vs-metastasis mutation concordance for clinical sequencing decisions.

Composition

• 69 patient trios; primary tumor location: right colon 28 (40%), left colon 30 (44%), rectum 11 (16%).
• 30 (43.5%) chemonaive prior to resection; 39 (56.5%) prior therapy. No anti-EGFR treatment before resection.
• Cancer type: COADREAD.
• Assay: msk-impact-panel (230-gene custom capture, mean 692× target coverage); WGS validation in 4 trios.

Assays / panels (linked)

• msk-impact-panel
• whole-genome-seq

Papers using this cohort

• PMID:25164765

Notable findings derived from this cohort

• KRAS, NRAS, and BRAF mutations were 100% concordant between primary tumor and metastasis across all 69 trios, supporting single-site sequencing for clinical anti-EGFR eligibility decisions PMID:25164765.
• 93% overall concordance for recurrent driver mutations; 18 private mutations (discordant) were found in APC (n=7), PIK3CA (n=5), SMAD4 (n=3), and TP53 (n=3) PMID:25164765.
• Metastasis-private RTK-RAS events (MAP2K1 Q56P, EGFR amplification) were identified in RAS/RAF wild-type cases, demonstrating actionable heterogeneity missed by primary-only sequencing PMID:25164765.

Sources

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