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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

Turnaround Requery

≤ 5 days

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.

This panel evaluates 21 genes that have an established, primary association with hereditary breast and/or gynecologic cancers (ovarian and uterine).

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

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-...

Genomic build

GRCh38

Genes Tested

ATM
BARD1
BRCA1
BRCA2
BRIP1
CDH1
CHEK2
DICER1
EPCAM
MLH1
MSH2
MSH6
NF1
PALB2
PMS2
PTEN
RAD51C
RAD51D
SMARCA4
STK11
TP53

Showing 21 of 21 genes in this panel

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