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Molecular & Genomic Testing

BRCA Testing on a — Tumour Sample

If your oncologist has asked for a BRCA test on your biopsy tissue, they are looking for mutations that developed inside the cancer — not for an inherited gene change. These two tests look alike but answer completely different questions.

Medically reviewed by Dr. Mohammed Imaduddin, Surgical Oncologist, MBBS · MS (General Surgery) · M.Ch (Surgical Oncology) · Last reviewed September 2026

  • Two separate tests — A tumour BRCA test and a blood BRCA test look at different DNA and answer different questions. Being told one is needed does not mean the other is too.
  • Uses existing biopsy tissue — In most cases, the sample from your biopsy is sufficient. A new procedure is usually not required.
  • Guides treatment, not family risk — A somatic mutation found in tumour tissue tells your oncologist how the cancer behaves. It does not mean blood relatives need testing.
  • Your oncologist decides — Some people need tumour testing, some need blood-based testing, and some need both — ordered for different clinical reasons.
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A BRCA test on tumour tissue looks for somatic mutations — changes that developed in your cancer cells after birth. This is different from blood-based germline testing, which checks whether you were born with an inherited BRCA mutation. Your oncologist decides which you need, or whether both apply.

Why is a tumour BRCA test not the same as a blood BRCA test?

The blood BRCA test checks whether you were born with a mutation in your BRCA1 or BRCA2 gene — a change inherited from a parent. It tells you about your long-term cancer risk and whether relatives might carry the same change. It does not tell your oncologist much about how to treat the cancer you already have.

A BRCA test on your tumour tissue is different. It looks at the DNA inside your cancer cells to find mutations that developed after the cancer started. Those mutations were not inherited. They guide your oncologist on how the cancer is behaving and whether certain treatments are likely to work.

Many people go through both tests at different points. The somatic test needs tumour tissue; the germline test needs a blood sample. Your oncologist decides which applies to your situation and whether both are needed.

What do the words on your report actually mean?

Somatic mutation
A mutation that developed inside your cancer cells after you were born. It is not inherited and cannot be passed to your children. Tumour BRCA testing looks for somatic mutations.
Germline mutation
A mutation present in every cell of your body from birth, inherited from a parent. Blood-based BRCA testing checks for germline mutations. A positive germline result has implications for blood relatives.
BRCA1 / BRCA2
Two genes whose normal job is to repair damaged DNA. When mutations in these genes are found in tumour tissue, the cancer may have lost this repair ability — which is relevant to certain treatment decisions.
HRR deficiency (HRRd)
A pattern of DNA damage across the tumour that occurs when genes like BRCA stop working. Some reports describe HRRd alongside BRCA results because the treatment relevance depends on the whole picture, not just one gene.
Pathogenic variant
A mutation the laboratory has confirmed is likely to disrupt normal gene function. A more precise term than 'positive result'.
Variant of uncertain significance (VUS)
A change in the gene the laboratory cannot yet classify as harmful or harmless. A VUS is not a positive result — it means the evidence is not yet clear enough to act on.

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What should you ask before the test is processed?

  • Ask whether this is somatic testing on tumour tissue or germline testing on blood — so you understand what the result will mean
  • Ask whether your existing biopsy sample is sufficient or whether a new sample is needed
  • Ask when the result is expected and who will explain it to you
  • Ask whether a genetic counsellor will be involved, especially if germline testing is also being recommended
  • Ask for an indicative cost estimate before the sample is sent — molecular test costs vary and are not always covered by insurance

What else do families commonly ask?

Does a positive tumour BRCA result mean my children or siblings are at risk?

No. A somatic mutation found in tumour tissue developed inside the cancer cells after the cancer started. It is not present in the rest of your body and cannot be passed to your children or inherited by siblings. A germline BRCA mutation — found by a blood test — is the type that runs in families. If your oncologist also recommends germline testing and that result is positive, a genetic counsellor will explain what it means for your relatives at that point. The tumour result alone is not a reason for family members to seek BRCA testing.

What does it mean if the tumour BRCA result is negative?

A negative tumour BRCA result means no BRCA1 or BRCA2 mutation was found in the cancer cells tested. It does not rule out mutations in other genes within the same DNA-repair pathway, and it does not rule out an inherited BRCA mutation that a blood test would need to check separately. What a negative result means for your treatment plan is a question for your oncologist — the answer depends on your cancer type and what other markers were tested alongside BRCA.

Why does my report mention HRR deficiency rather than just BRCA?

BRCA1 and BRCA2 sit within a wider group of genes involved in DNA repair, called the homologous recombination repair pathway. Some laboratories report the overall pattern of DNA damage across this pathway — called HRR deficiency or HRRd — rather than individual genes alone, because the treatment relevance depends on the whole picture. A positive BRCA result often co-occurs with HRRd, but not always. Your oncologist or a molecular pathologist can explain which specific finding applies to you and what it means for your options.

How long does tumour BRCA testing take?

Turnaround times vary by laboratory and depend on the quality of the tissue sample. Ask your team when the sample was dispatched and for an expected result date — that way you have a date to follow up against rather than waiting without a timeline. If the sample quality was flagged as borderline, the laboratory may need to request additional tissue, which adds time. Your oncologist's team should keep you informed if there is a delay.

Should we repeat the test privately to confirm the result?

Repeating the test on the same tissue block rarely changes the result when the first laboratory was accredited and the sample was adequate. A second opinion makes more sense when the sample quality was borderline, when the result was a variant of uncertain significance that a specialist laboratory should review, or when you want independent confirmation before a major treatment decision. Discuss it with your oncologist first, so the right question is being asked on the right sample.

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Common questions

Frequently asked questions

Who orders a BRCA test on tumour tissue and why?

Your treating oncologist orders it, based on your cancer type and stage. For certain cancer types, guidance from NCCN, ESMO and ICMR includes somatic BRCA testing as part of standard workup because the result can change what treatment is recommended. If you have not been told why the test is being ordered, that is a direct question to ask before the sample is sent. You are entitled to understand what question the test is trying to answer.

Is tumour BRCA testing covered by health insurance in India?

Coverage varies by insurer and policy. Some policies cover molecular testing when it is clinically indicated and ordered by a specialist, but terms differ widely and cover cannot be assumed. Ask your insurer before the test is processed, and ask the oncology team for an indicative cost figure in writing. Costs for somatic BRCA testing in India vary by laboratory and change over time — any figure quoted is indicative.

What happens if the tumour BRCA result comes back positive?

A positive result means a BRCA mutation was found in the cancer cells. Your oncologist will explain what it means for your specific treatment plan — the significance depends on your cancer type, stage, and the other markers tested at the same time. Ask directly at your next appointment: 'Does this result change the plan, and if so, how?' That is a clear and reasonable question to put to your oncologist.

How is BRCA tumour testing different from a full somatic gene panel?

BRCA tumour testing looks specifically at the BRCA1 and BRCA2 genes in your cancer cells. A comprehensive somatic gene panel — sometimes called next-generation sequencing or NGS — looks at a larger set of genes in the tumour at once. Your oncologist decides which is appropriate based on your cancer type and what clinical question needs answering. Both use tumour tissue; the difference is scope. Ask which has been ordered and what the result is expected to inform.

Does a somatic BRCA result affect whether my family members should be tested?

No. A somatic BRCA mutation found in tumour tissue developed inside the cancer and is not inherited. It gives your family no direct information about their own risk. If your oncologist also recommends blood-based germline testing and that result is positive, a genetic counsellor will explain what it means for relatives separately. The tumour result alone is not a reason for family members to seek BRCA testing.

Can I ask for the pathology and molecular reports in writing?

Yes, and you should. You are entitled to receive both reports in writing. The histopathology report — describing what the biopsy tissue showed under the microscope — is usually available before molecular results, because the two are processed separately. The BRCA result comes in a separate report, later. Ask your oncologist's team to provide both when each is ready, so you have a written record to share with any other treating doctors if needed.

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