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Take to a doctorThe only finding at this level in Elena's genome

Hereditary breast and ovarian cancer

BRCA2c.5946delp.Ser1982ArgfsTer22chr13:32340301 GT>Gone copy (heterozygous)

One copy of BRCA2, a gene that repairs broken DNA, has lost a single letter. From that point the gene is read out of step, and the protein stops about 1,400 building blocks short. People with such a change have a higher lifetime risk of breast and ovarian cancer. It is not a diagnosis of cancer.

Figure 1  ·  The BRCA2 protein, and where this change cuts it
Everything to the right of the cut is not made, including the part that binds DNA. Changes like this are why the gene is classed as a cause of hereditary cancer.

What to do

In this order. None of it is urgent this week; all of it is worth doing.
  1. Bring this page to a doctor or a genetic counsellor.A counsellor explains what it means for Elena and her relatives.
  2. Confirm it with a clinical test in a certified laboratory.This pipeline is research; a clinic will not act on it alone.
  3. Ask about screening and prevention.Breast screening with MRI, and options for the ovaries, start earlier than the general programme.
  4. Tell close relatives they can be tested.Parents, brothers, sisters and children each have a 1 in 2 chance of carrying it.
Prepare a page for a doctorPrint this finding
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The evidence

Why the pipeline calls this pathogenic, and how sure each source is.
ClassificationPathogenicClinVar and the cancer report agree
ClinVar review★★★★reviewed by an expert panel (ENIGMA); 4 stars is a practice guideline
Cancer reportTier 1the highest of five; also on the 84-gene secondary-findings list
PVS1Loss of function in a gene where loss of function causes the disease. Very strong.
PM2_SupportingRare in the population (below).
Reporting ruleBRCA2 is a dominant gene: one pathogenic copy is reported.
Figure 2  ·  How common the change is (gnomAD, log scale)
About 1 person in 5,600 carries it. Above 1% a change is unlikely to cause a strong effect; this one is far below.

Missense predictors (REVEL, AlphaMissense) do not score frameshifts: not applicable. CADD 35. Splicing (SpliceAI): no effect predicted.

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The reads

Is the change really there, in the raw data?
Figure 3  ·  Reads over chr13:32,340,301 (sketch of the 34 reads)
Each line is one read. 17 reads lack the T (red); 17 carry it. Half and half is what one changed copy looks like.
Depth34reads at this spot
With the change17reads
Allele balance0.50one copy ≈ 0.5
Call quality63above 30 is confident
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In the family

Who else this concerns.

Each of Elena's parents, siblings and children had a 1 in 2 chance of carrying it. Marc does not carry it. Carmen, Elena's mother, has no genome here: sequencing her would show which side it came from.

Lía's result. An adult-onset finding about a child. Many families wait until the child can choose.
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Caveat and sources

A research pipeline, not a clinical test. Confirm every pathogenic finding in a certified laboratory before acting. The classification is ClinVar's and the cancer report's, not the pipeline's own judgement. A short deletion inside a run of the same letter can be placed one position off; the change and its effect are the same.

SourceReleaseWhat it gave
ClinVar2026-10-02 (2026-11-06 out)Pathogenic, 3 stars, expert panel
Cancer report (CPSR)PCGR 2.2, 2026-06-01Tier 1, ACMG codes
Secondary findingsACMG SF v3.3Reported: dominant gene
gnomADv4.10.009% (allele frequency)