BRCAplus-Expanded

To understand your patient’s risk and minimize uncertain results, you need a genetic test designed specifically for patients with a high risk personal and/or family breast cancer history. BRCAplus-Expanded identifies critical breast cancer genes with published guidelines for medical management, so you can help your patient make confident, personalized screening and prevention decisions.

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Test Code 8837
Turnaround Time (TAT) 14-21 days
Number of Genes 8
Specimen Requirements Click here

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Why Is This Important?

Knowing if your patient has hereditary cancer can help you determine their future cancer risks and guide your medical management recommendations. Key benefits include:

  1. Option to modify frequency and initial age of mammogram and breast MRI
  2. Consideration of prophylactic mastectomy or other risk-reducing measures, as appropriate
  3. Option to tailor treatments (e.g. PARP inhibitors for BRCA1/BRCA2)
  4. Identify at-risk family members

When To Consider Testing

  • Early-onset breast cancer (diagnosed <45 years of age)
  • Triple negative (ER-/PR-/HER2/neu-) breast cancer diagnosed <60 years of age
  • Ovarian, Fallopian tube, or primary peritoneal cancer at any age
  • Bilateral or multiple primary breast cancers
  • Male breast cancer at any age
  • Ashkenazi Jewish descent with breast cancer at any age
  • 3 or more cases of breast, ovarian, pancreatic, and/or high-grade prostate cancer at any age
  • Known BRCA1 or BRCA2 mutation in the family

Mutation Distribution and Detection Rates

Test Description

BRCAplus-Expanded analyzes 8 genes (listed above). All genes are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for PTEN (c.-1300 to c.-745). The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by NGS and confirmed by PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 8 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray.

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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