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HELIX DIAGNOSTICS

Hereditary Breast and Gynecologic Cancer Panel

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).

Genes Tested (21)

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

Important Panel Information

Turnaround time: 7-24 days

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.

The genes on this panel were specifically selected for their established association with breast and gynecologic cancers. Identification of a pathogenic variant may facilitate increased cancer screening and preventive surgery for early-detection and prevention. Identification of a pathogenic variant also helps identify at-risk family members, who can pursue genetic testing and preventive measures.

The genes on this panel are associated with conditions that have autosomal dominant and/or autosomal recessive inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Other Tests to Consider

BRCA1 and BRCA2 Panel

2 genes

Hereditary Multi-Cancer Panel

70 genes

Lynch Syndrome Panel

5 genes

Hereditary Colorectal Cancer Panel

20 genes