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Molecular alterations

Laboratory findings that can change the discussion

32 specific alterations are explained separately from their biomarker pages because laboratory reports usually name a specific variant, not only the marker.

EGFR

  • DeletionEGFR

    EGFR exon 19 deletion

    A group of EGFR mutations most often found in non-small-cell lung cancer and commonly discussed when choosing targeted therapy.

    Lung cancer

  • MutationEGFR

    EGFR L858R

    A point mutation in exon 21 that, together with exon 19 deletion, is among the most commonly discussed EGFR groups.

    Lung cancer

  • InsertionEGFR

    EGFR exon 20 insertion

    A group of EGFR changes that is generally less responsive to usual EGFR inhibitors.

    Lung cancer

  • MutationEGFR

    EGFR T790M

    A change that often appears as a resistance mechanism after early-generation EGFR inhibitors.

    Lung cancer

  • MutationEGFR

    EGFR C797S

    A change that appears in some patients after third-generation EGFR inhibitor therapy.

    Lung cancer

ALK

  • FusionALK

    ALK fusion (EML4-ALK)

    A gene fusion that opens the ALK inhibitor category and is discussed across treatment lines in non-small-cell lung cancer.

    Lung cancer

  • MutationALK

    ALK G1202R

    An ALK resistance change commonly discussed after second-generation inhibitors.

    Lung cancer

ROS1

  • FusionROS1

    ROS1 fusion

    A rare fusion that opens the ROS1 inhibitor category in non-small-cell lung cancer.

    Lung cancer

KRAS

  • MutationKRAS

    KRAS G12C

    A specific KRAS change with dedicated inhibitors, discussed in advanced lung cancer.

    Lung cancer, Colorectal cancer

  • MutationKRAS

    KRAS G12D

    A KRAS change commonly found in pancreatic and colorectal cancer, with treatment options still limited.

    Pancreatic cancer, Colorectal cancer, Lung cancer

MET

  • MutationMET

    MET exon 14 skipping

    A specific MET change that opens the MET inhibitor category in lung cancer.

    Lung cancer

  • AmplificationMET

    MET amplification

    Increased MET gene copy number that can appear as a resistance mechanism to EGFR inhibitors.

    Lung cancer, Stomach cancer

RET

  • FusionRET

    RET fusion

    A rare fusion that can be targeted with selective RET inhibitors.

    Lung cancer, Stomach cancer

BRAF

  • MutationBRAF

    BRAF V600E

    The most commonly actionable BRAF change, discussed with BRAF and MEK inhibitors.

    Lung cancer, Colorectal cancer

ERBB2

  • AmplificationHER2

    HER2 amplification

    Increased HER2 copy number or high protein expression, discussed in stomach and breast cancer.

    Stomach cancer, Breast cancer

  • OverexpressionHER2

    HER2-low

    A group with low HER2 expression that is now discussed in some breast cancers.

    Breast cancer

NTRK

  • FusionNTRK

    NTRK fusion

    A rare tumour-agnostic fusion that opens the TRK inhibitor category.

    Lung cancer, Stomach cancer, Lymphoma

CD274

MMR

  • Scale statusMSI / MMR

    MSI-high or dMMR

    A DNA repair-deficient state that opens an immunotherapy category in several cancers.

    Stomach cancer, Colorectal cancer, Breast cancer, Pancreatic cancer

CLDN18

TMB

  • TMB-high

    A high tumour mutation burden value sometimes used as an additional consideration for immunotherapy.

    Lung cancer, Stomach cancer, Colorectal cancer

TNFRSF17

  • ImmunophenotypeBCMA

    BCMA positive

    BCMA expression on plasma cells, required when discussing anti-BCMA therapy.

    Multiple myeloma

GPRC5D

  • ImmunophenotypeGPRC5D

    GPRC5D positive

    An alternative myeloma-cell target for heavily treated disease.

    Multiple myeloma

CD19

  • ImmunophenotypeCD19

    CD19 positive

    A B-cell surface marker required for anti-CD19 cellular therapy.

    Lymphoma, Leukemia

CD22

  • ImmunophenotypeCD22

    CD22 positive

    A B-cell marker used as a target in some acute lymphoblastic leukemia.

    Leukemia, Lymphoma

GPC3

  • OverexpressionGPC3

    GPC3 positive

    GPC3 expression that helps confirm tumour origin and is being studied as a therapy target in liver cancer.

    Liver cancer

BRCA1/BRCA2

MGMT

  • MethylationMGMT

    MGMT methylated

    MGMT promoter methylation status discussed in glioma.

    Brain cancer

FLT3

  • InsertionFLT3

    FLT3-ITD

    A FLT3 change often found in acute myeloid leukemia and discussed in treatment selection.

    Leukemia

BCR-ABL1

Not a diagnosis and not final medical advice. Must be reviewed by a doctor.

Next steps

These suggestions come from links between entries in TanyaKanker's database, not from a medical judgement. Each suggestion includes why it appears.

Next to learn

  • Lung Cancer

    Cancer type

    Reason: Most connected in the oncology graph

  • Stomach Cancer

    Cancer type

    Reason: Most connected in the oncology graph

  • Lymphoma

    Cancer type

    Reason: Most connected in the oncology graph

  • Multiple Myeloma

    Cancer type

    Reason: Most connected in the oncology graph

  • ALK

    Biomarker

    Reason: Highest discovery priority among markers

  • BCMA

    Biomarker

    Reason: Highest discovery priority among markers

  • BCR-ABL

    Biomarker

    Reason: Highest discovery priority among markers

  • BRAF

    Biomarker

    Reason: Highest discovery priority among markers

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