Classification result
DEMO-EC-003
p53abn
TP53 aberrant / copy-number high. Worst prognosis. Swedish guidelines: postoperative chemotherapy for stage I-II.
Classification path
1
POLE_EDM
Negative
2
MMRd
Negative
3
TP53_mutation
Positive
TP53 p.R175H
Secondary evidence
TMB
3.8
Concordant
TMB 3.8 mut/Mb concordant for p53abn (expected <10 mut/Mb).
CNA burden
0.6
Concordant
Fraction genome altered: 0.58 — concordant with p53abn (expected high).
Signatures
Concordant Expected signatures: SBS1, SBS5. Present: SBS1, SBS5.Spectrum
N/A Insufficient SNVs for spectrum analysis (6 < 10).Clinical notes
- TP53 R175H is a known pathogenic hotspot.
- Swedish guidelines: postoperative chemotherapy for stage I-II p53abn.
- Note: TP53 sequencing used here — p53 IHC confirmation recommended (~92% concordance with sequencing).