Mutation Combinations Database

Comprehensive guide to genetic mutation combinations in colorectal cancer, their clinical implications, and treatment recommendations.

64
Total Combinations
39
Actionable Targets
14
Categories
Showing 64 combinations
Third-Line Refractory
100.00% Actionable Level 1
Any
STANDARD (SUNLIGHT): TAS-102 + Bevacizumab (OS 10.8mo vs 7.5mo, new standard 2023). ALTERNATIVE: Fruquintinib (FRESCO-2, OS 7.4mo). Regorafenib (CORRECT, OS 6.4mo). Consider clinical trials. Re-test for actionable mutations.
Clinical Implications

STANDARD (SUNLIGHT): TAS-102 + Bevacizumab (OS 10.8mo vs 7.5mo, new standard 2023). ALTERNATIVE: Fruquintinib (FRESCO-2, OS 7.4mo). Regorafenib (CORRECT, OS 6.4mo). Consider clinical trials. Re-test for actionable mutations.

Updated 2023: SUNLIGHT trial established TAS-102 + Bevacizumab as preferred third-line option. Superior to TAS-102 monotherapy (HR 0.61). Fruquintinib approved as additional option (FRESCO-2). Always check for targetable alterations before palliative therapy.

Recommended
TAS-102 + BevacizumabFruquintinibRegorafenibClinical trials
MSS (Immunotherapy Emerging)
85.00% Actionable Level 3
MMR proficient
EMERGING: Botensilimab + Balstilimab showing breakthrough activity (ORR 24%, DCR 73% in refractory MSS mCRC). FDA breakthrough therapy designation. Phase 3 trials ongoing. Standard options: Chemotherapy, TAS-102 + Bevacizumab (SUNLIGHT), Fruquintinib (FRESCO-2).
Clinical Implications

EMERGING: Botensilimab + Balstilimab showing breakthrough activity (ORR 24%, DCR 73% in refractory MSS mCRC). FDA breakthrough therapy designation. Phase 3 trials ongoing. Standard options: Chemotherapy, TAS-102 + Bevacizumab (SUNLIGHT), Fruquintinib (FRESCO-2).

MSS/pMMR tumors are traditionally resistant to checkpoint inhibitors. Botensilimab is Fc-enhanced anti-CTLA-4 with improved T-reg depletion. First IO showing meaningful activity in MSS CRC. SUNLIGHT established TAS-102 + Bevacizumab as third-line standard (OS 10.8mo).

Recommended
Botensilimab + Balstilimab (clinical trials)TAS-102 + BevacizumabFruquintinibRegorafenibStandard chemotherapy
Left-Sided Primary
Good 60.00% Actionable Level 1
Location
Better prognosis. If RAS WT, strongly prefer anti-EGFR.
Clinical Implications

Better prognosis. If RAS WT, strongly prefer anti-EGFR.

Sidedness is independent prognostic factor.

Recommended
If RAS WT: Anti-EGFRIf RAS MT: Bevacizumab
Right-Sided Primary
Poor 40.00% Actionable Level 1
Location
Higher BRAF, MSI-H. Worse prognosis. Check MSI always.
Clinical Implications

Higher BRAF, MSI-H. Worse prognosis. Check MSI always.

Different biology regardless of RAS status.

Recommended
Intensive chemotherapyBevacizumab-based
Acquired RAS (Post-Anti-EGFR)
Intermediate 30.00% Actionable Level 2A
KRAS NRAS
RAS clones may decline after withdrawal. Rechallenge possible.
Clinical Implications

RAS clones may decline after withdrawal. Rechallenge possible.

Clonal evolution is reversible.

Recommended
Chemo holiday from anti-EGFRLiquid biopsy monitoringAnti-EGFR rechallenge
Avoid
Continuing anti-EGFR
RAS/BRAF Wild-Type (Left)
Good 25.00% Actionable Level 1
KRAS NRAS BRAF
Best anti-EGFR candidates. PARADIGM showed superiority vs bevacizumab.
Clinical Implications

Best anti-EGFR candidates. PARADIGM showed superiority vs bevacizumab.

Left-sided + RAS WT = anti-EGFR preferred.

Recommended
FOLFOX + PanitumumabFOLFIRI + Cetuximab
RAS WT + BRAF WT + Left-sided
Intermediate 25.00% Actionable A
RAS Wild-type BRAF Wild-type Left-sided
Clinical Implications

Best candidates for anti-EGFR therapy. Left-sided tumors have superior outcomes with anti-EGFR.

Recommended
FOLFOX/FOLFIRI + CetuximabFOLFOX/FOLFIRI + Panitumumab
ctDNA MRD Positive
Poor 20.00% Actionable Level 2A
ctDNA
ctDNA MRD identifies high recurrence risk. DYNAMIC trial validated.
Clinical Implications

ctDNA MRD identifies high recurrence risk. DYNAMIC trial validated.

Transforming adjuvant decisions.

Recommended
Adjuvant chemotherapyIntensive surveillance
MSI-H / dMMR
Good 15.00% Actionable Level 1
MLH1 MSH2 MSH6 PMS2
FIRST-LINE: Nivolumab + Ipilimumab (CheckMate-8HW, ORR 71%, 24mo PFS 72%) OR Pembrolizumab (KEYNOTE-177). CheckMate-8HW showed superiority over chemotherapy. Later lines: Nivolumab, Pembrolizumab, Dostarlimab.
Clinical Implications

FIRST-LINE: Nivolumab + Ipilimumab (CheckMate-8HW, ORR 71%, 24mo PFS 72%) OR Pembrolizumab (KEYNOTE-177). CheckMate-8HW showed superiority over chemotherapy. Later lines: Nivolumab, Pembrolizumab, Dostarlimab.

Updated 2024: CheckMate-8HW established Nivo+Ipi as preferred first-line for MSI-H mCRC. ORR 71% vs 14% chemo, 24mo PFS 72% vs 14%. Prevalence: ~15% all stages, ~4-5% metastatic. Test all mCRC at diagnosis.

Recommended
Nivolumab + Ipilimumab (first-line)Pembrolizumab (first-line)Dostarlimab
Avoid
5-FU monotherapy
Young-Onset CRC (<50)
Intermediate 15.00% Actionable Level 2A
Multiple
Higher hereditary rate. Screen all for Lynch.
Clinical Implications

Higher hereditary rate. Screen all for Lynch.

All <50 should have genetic evaluation.

Recommended
MSI/MMR testingGermline testingStandard treatment
RAS/BRAF Wild-Type (Right)
Intermediate 10.00% Actionable Level 2A
KRAS NRAS BRAF
Despite RAS WT, right-sided benefit less from anti-EGFR.
Clinical Implications

Despite RAS WT, right-sided benefit less from anti-EGFR.

Bevacizumab may be preferred first-line.

Recommended
FOLFOX + BevacizumabFOLFOXIRI + Bevacizumab
BRAF V600E (MSS)
Poor 8.00% Actionable Level 1
BRAF
FIRST-LINE (NEW 2025): Encorafenib + Cetuximab + mFOLFOX6 (BREAKWATER, OS 30.3 mo vs 15.1 mo - DOUBLES SURVIVAL). SECOND-LINE+: Encorafenib + Cetuximab doublet (BEACON, OS 9.3 mo).
Clinical Implications

FIRST-LINE (NEW 2025): Encorafenib + Cetuximab + mFOLFOX6 (BREAKWATER, OS 30.3 mo vs 15.1 mo - DOUBLES SURVIVAL). SECOND-LINE+: Encorafenib + Cetuximab doublet (BEACON, OS 9.3 mo).

BREAKWATER 2025: Practice-changing for first-line BRAF V600E mCRC. PFS 12.8 vs 7.1 mo, OS 30.3 vs 15.1 mo. FDA accelerated approval. Always test for MSI-H as BRAF V600E + MSI-H has better prognosis.

Recommended
Encorafenib + Cetuximab + mFOLFOX6 (first-line)Encorafenib + Cetuximab (second-line)FOLFOXIRI + Bevacizumab
Avoid
Anti-EGFR monotherapy
BRAF V600E + MSS
Intermediate 8.00% Actionable A
BRAF V600E MSS
FIRST-LINE: Encorafenib + Cetuximab + mFOLFOX6 (BREAKWATER, OS 30.3mo). SECOND-LINE+: Encorafenib + Cetuximab (BEACON). Note: MSS BRAF V600E has very poor prognosis without targeted therapy.
Clinical Implications

FIRST-LINE: Encorafenib + Cetuximab + mFOLFOX6 (BREAKWATER, OS 30.3mo). SECOND-LINE+: Encorafenib + Cetuximab (BEACON). Note: MSS BRAF V600E has very poor prognosis without targeted therapy.

BRAF V600E + MSS is one of the worst prognostic groups in mCRC. BREAKWATER data now offers hope with targeted first-line therapy. Median OS improved from 15 to 30 months. Test all mCRC for BRAF at diagnosis.

Recommended
Encorafenib + Cetuximab + mFOLFOX6 (first-line)Encorafenib + Cetuximab (second-line)
Avoid
Standard doublet chemotherapy aloneAnti-EGFR monotherapy
PIK3CA Exon 20
Intermediate 7.00% Actionable Level 2A
PIK3CA
Strong aspirin benefit data. Regular aspirin improves survival.
Clinical Implications

Strong aspirin benefit data. Regular aspirin improves survival.

Discuss aspirin with patient if no contraindications.

Recommended
Standard chemotherapyAspirinPI3K inhibitor trials
TMB-High (≥10 mut/Mb)
Intermediate 5.00% Actionable Level 2A
Multiple
FDA-approved tumor-agnostic biomarker for pembrolizumab.
Clinical Implications

FDA-approved tumor-agnostic biomarker for pembrolizumab.

Can occur in MSS tumors. Check NGS for TMB score.

Recommended
Pembrolizumab
About This Database

This database contains clinically relevant mutation combinations in colorectal cancer. Each combination includes:

  • Genes involved - The genetic alterations present
  • Prognosis - Expected outcome classification
  • Prevalence - How common in CRC patients
  • Recommended treatments - Evidence-based options
  • Treatments to avoid - Known ineffective therapies
  • Evidence level - Strength of supporting data

Actionable combinations have FDA-approved targeted therapies or strong clinical trial evidence. Always consult with your oncologist for personalized treatment decisions.