Hereditary Breast Cancer Panel
A focused 13-gene panel for evaluating hereditary breast cancer predisposition, powered by the Helix Exome+® platform for superior coverage of clinically relevant regions.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
13
Panel Description
Hereditary predisposition to breast cancer refers to the increased likelihood of developing adult-onset breast cancer due to genetic factors that are passed down in families. The most well-known genes are BRCA1 and BRCA2, although there are others, including the genes on this panel. Individuals with a pathogenic variant may also have an increased risk of other cancers such as ovarian and prostate, depending on the affected gene.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
A personal and/or family history suggestive of a hereditary form of breast cancer predisposition.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary forms of breast cancer.
Technical Specifications
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
BRCA1: sequencing analysis extends to CDS +/-20 bp; BRCA2: analysis includes detection of c.156_157insAlu and sequencing analysis extends to CDS +/-20 bp; PTEN: analysis includes CNV of the promoter; STK11: sensitivity of exon 3 analysis may be reduced; TP53: analysis includes CNV of the promoter.
Genomic build
GRCh38
Genes Tested
13 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 days (standard), Typically ≤ 5 days (requery)
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
Hereditary predisposition to breast cancer refers to the increased likelihood of developing adult-onset breast cancer due to genetic factors that are passed down in families. The most well-known genes are BRCA1 and BRCA2, although there are others, including the genes on this panel. Individuals with a pathogenic variant may also have an increased risk of other cancers such as ovarian and prostate, depending on the affected gene.
This panel evaluates 13 genes that have an established primary association with hereditary predisposition to breast cancer.
Ready to order this test?
Contact our clinical team to order the Hereditary Breast Cancer Panel for your patients.