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BRCA1/BRCA2MutationDraft, not yet medically reviewed

Pathogenic BRCA1 or BRCA2 variant

A pathogenic BRCA change that affects treatment choices and family risk.

Parent marker: BRCA1 / BRCA2

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

Clinical meaning

These changes indicate DNA repair weaknesses that can be exploited by the PARP inhibitor category. If inherited genes are found, genetic counseling becomes an important part for the family.

How this finding appears in a report

Checked through sequencing. It is necessary to distinguish whether the changes are found in tumor tissue only or also in inherited genes.

When therapy stops working

Resistance may arise through restoration of DNA repair function or other changes.

What needs verification

  • Whether the changes are congenital or only in the tumor.
  • Classification of variants in laboratory reports.
  • Has genetic counseling been carried out before congenital examination?

Marker context: BRCA1 / BRCA2

BRCA alteration opens up a category of therapies that exploit DNA repair weaknesses in some breast, ovarian, pancreatic and prostate cancers. Screening is also important to assess risk to the family, which requires genetic counseling.

A negative result does not always mean absent

Test sensitivity differs by sample type and method. Results need to be read together with the pathology report and clinical condition.

Summary

Gen
BRCA1/BRCA2
Variant
BRCA1 atau BRCA2 pathogenic variant
Alteration type
Mutation
Discussed in
Breast Cancer, Pancreatic Cancer
Updated
2026-09-10

Other names in reports

BRCA mutation, germline BRCA, somatic BRCA

Drugs discussed

Treatment categories

Next steps

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

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