Hereditary Breast and Gynecologic Cancers Panel
A 21-gene panel for assessing hereditary risk for breast, ovarian, and uterine cancers, powered by the Helix Exome+® platform for comprehensive variant detection.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
21
Panel Description
Hereditary predisposition to breast and gynecologic cancer refers to the increased likelihood of developing adult-onset uterine and ovarian cancer in addition to breast cancer. The most well-known genes are BRCA1 and BRCA2 and those associated with Lynch syndrome, 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 colorectal and prostate, depending on the affected gene.
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Indications for Testing
A personal and/or family history suggestive of a hereditary form of breast and gynecologic cancers (ovarian and uterine).
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 and gynecological 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; EPCAM: analysis is limited to CNV of exons 8-9; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of NM_000251.3(MSH2):c.942+3A>T; 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
21 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 and gynecologic cancer refers to the increased likelihood of developing adult-onset uterine and ovarian cancer in addition to breast cancer. The most well-known genes are BRCA1 and BRCA2 and those associated with Lynch syndrome, 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 colorectal and prostate, depending on the affected gene.
This panel evaluates 21 genes that have an established, primary association with hereditary breast and/or gynecologic cancers (ovarian and uterine).
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Contact our clinical team to order the Hereditary Breast and Gynecologic Cancers Panel for your patients.