Gene amplification and copy-number change
Cancer cells often have extra copies of a growth gene (amplification) or have lost copies of a protective one (deletion), rather than a spelling change within the gene. Extra copies of HER2 or MYCN are classic examples that change treatment.
Amplification (detected by FISH, ISH or NGS copy-number calls) drives overexpression: HER2 in breast and gastric cancer, MYCN in high-risk neuroblastoma, MET amplification as a resistance route to EGFR inhibitors, CCNE1 in ovarian and gastric cancer, MDM2 in liposarcoma, CDK4 in glioma. Deletions remove tumour suppressors: del(17p)/TP53 in CLL and myeloma (predicting chemo-resistance), CDKN2A/B in glioma (defining grade 4), MTAP (creating a PRMT5 vulnerability), 9p21 loss linked to immunotherapy resistance. Loss of heterozygosity and large-scale copy changes are summed into genomic-scar scores used to infer HRD and predict PARP inhibitor benefit.
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not linked directly; found by shared links- TermTP53-mutated (p53-abnormal)
Shares Cytogenetics and karyotype, MDM2.
- PersonReinhard Büttner
Shares Histopathology & immunohistochemistry, Comprehensive genomic profiling.
- TermHormone receptor status (ER / PR)
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- IdeaEvery pathology and genomic report ships with a signed plain-language version
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- PersonFunda Meric-Bernstam
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- IdeaRe-test the metastasis, not the old primary, before every change of treatment
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- InstitutionInstituto Alexander Fleming
Shares HER2, Comprehensive genomic profiling.
- PersonJeeyun Lee
Shares HER2, Comprehensive genomic profiling.