BRCAplus

BRCAplus is a next generation sequencing (NGS) panel that simultaneously analyzes 8 breast cancer susceptibility genes, all with published management guidelines.

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Test Code 8836
Turnaround Time (TAT) 7-10 days
Number of Genes 8
Specimen Requirements Click here

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Why Is This Important?

Identifying patients with a genetic predisposition to cancer can allow informed recommendations and personalized medical management that significantly decrease cancer risks and improve overall survival rates.

  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 Detection Rate

BRCAplus can detect >99.9% of described mutations in the included genes listed above, when present (analytic sensitivity).

Test Description

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. A secondary sequencing method is performed for any regions 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.Gene copy number analysis by a targeted microarray identifies gross deletions and duplications in all 6 genes.

 

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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