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

Result

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

Comments

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

NGS

  • 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

Notes

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)

Sequencing

  • 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

Reporting

  • 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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