Report Template and Interpretation

General recommendations for reporting BRCA test resultsREF

  • The report should include details of the laboratory that performed the test along with accreditation numbers (such as ISO or CPA)
  • The report should contain page numbers, essential when multiple pages are used (e.g. page 1 of 2)
  • Results should initially be presented in a brief and unambiguous way to aid easy interpretation
  • The terms “positive” and “negative” can be ambiguous and are not recommended to be used
  • Reference sequence and nomenclature of detected genetic variants should be meaningful and consistent with the recommended HGVS nomenclature
  • BRCA mutations are commonly classified and reported using a five-class system developed by the International Agency for Research on CancerREF
  • Where appropriate it is recommended to report that the patient should be referred for genetic counselling if a potential germline pathogenic BRCA mutation has been detected
  • Where appropriate a family follow up can be recommended if a pathogenic germline mutation has been detected

Interactive Guide

BRCA tumour test report template: pathogenic mutation identified

There are a number of elements which should be present in every report.REF

A standard tumour test report below contains highlighted key elements with further explanations.REF

Interpretation of results presented in a report


It clearly states in an unambiguous way, that this sample has a pathogenic mutation of the BRCA2 gene.REF

  • Pathogenic variants, confer an increased risk of disease which can have implications for treatment and prognosisREF
  • If no pathogenic mutation was discovered it might state “NO PATHOGENIC MUTATION DETECTED,”REF which also can have implications for treatment and prognosis


The molecular biologist/clinical scientist comments section confirms the result of this test, stating that the sample contains a pathogenic mutation of the BRCA2 gene.REF


  • Next generation sequencing (NGS) is the high throughput sequencing technology employed to sequence the BRCA1 and BRCA2 genes

Sequencing coverage

  • Describes the average number of reads that align to, or "cover", known reference bases. A higher coverage allows more confidence in the sequencing result
  • In this case 100% coverage has been achieved so one can interpret the results with good confidence

BRCA2 c.9294C>G p.(Tyr3098Ter)

  • Refers to a detailed description of this pathogenic mutationREF
  • c.9294C>G refers to the location of a DNA sequence change, in comparison to a reference coding DNA sequence
  • In this case this refers to nucleotide position 9294 where a C (cytosine) nucleotide has been substituted for a G (guanine)
  • Tyr3098Ter refers to the amino acid change arising as a result of this mutationREF
  • In this case a tyrosine (Tyr) has been replaced by a translation stop codon (Ter) in the 3098 position of the BRCA2 amino acid sequence


In order to sequence tumour DNA, it will firstly be isolated and enriched for the BRCA1/2 genes before sequencing is performed. In this report notes section, it outlines some of the specific methods employed.REF

DNA enrichment

  • In the first part, it describes how the sample was enriched using a commercial primer kit (GeneRead DNAseq v2 Human Breast Cancer Panel from Qiagen)


  • Following amplification, the sample was sequenced using a next generation sequencing platform from Illumina

Data analysis

  • The results were then analysed using software for DNA sequence variations including single nucleotide variations (SNVs) and small insertions/deletions


  • Mutations were reported using standard mutation nomenclature and naming approaches by comparing the BRCA1/2 sequences with standard reference sequences LRG292t1 (BRCA1), LRG293t1 (BRCA2)

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