1. What is BreastTrueTM
High Risk Panel?
BreastTrueTM
High Risk Panel is a next-generation
sequencing test that includes deletion/duplication
analysis to detect mutations in seven high-risk breast
cancer susceptibility genes, including BRCA1, BRCA2
and PALB2.
Recent studies of breast cancer survivors have shown
that approximately 70 percent of the mutations
identified were BRCA1/2 mutations. Approximately
4 percent had germline mutations in other cancer-
susceptibility genes, including high-risk genes. These
additional high-risk genes include CDH1, PALB2,
PTEN, STK11, and TP53. BreastTrue High Risk Panel
analyzes all of these genes.
Why BreastTrueTM
High Risk Panel?
3-week turnaround time
Flexible sample types (blood and saliva
accepted)
Patient-friendly billing policy
Advanced variant classification system
Reflex testing available
For more information about Pathway Genomics’ BreastTrueTM
High Risk Panel
www.pathway.com | 877.505.7374 | clientservices@pathway.com
T-1138.001: BRCATrue Brochure (Physician) | 5/2014
BRCA1
BRCA2
CDH1
PALB2
PTEN
STK11
TP53
Technical Specifications
Massively parallel sequencing (NGS) is carried out on all of the coding exons with at least 20 bp flanking each side of the
exon. Our assay is also optimized to include deep intronic regions and overlapping amplicons for additional coverage.
Sanger sequencing back-fill is also utilized in places where targeted gene regions have insufficient coverage (defined
as under 25x). All variants detected by NGS are subsequently confirmed with Sanger DNA sequencing. Large gene
rearrangements (large deletions or duplications) are detected using array comparative genomic hybridization (aCGH).
T-1146.002: BreastTrue High Risk Panel Brochure (Physician)

2. For more information about Pathway Genomics’ BreastTrueTM
High Risk Panel
www.pathway.com | 877.505.7374 | clientservices@pathway.com
T-1138.001: BRCATrue Brochure (Physician) | 5/2014
BreastTrueTM
Sample Logistics
Insurance
All commercial insurance plans accepted
All Medicare plans accepted
Support
Pathway is committed to proving the best quality of care.
As such, we offer complimentary pre- and post-test
genetic consultations with one of our certified genetic
counselors.
Sample Types
Blood and Saliva – Pathway Genomics accepts
multiple sample types to allow providers flexibility
with their patients.
Variant Classifications
Familial Studies Program
In the process of sequencing the patient’s DNA, we may identify a genetic change with no clear cancer association, or a
change in which conflicting data exist. These genetic changes are called variants. Pathway Genomics offers a complimentary
Familial Studies Program to help understand the significance of these genetic changes, and how the patient and family
members may be affected.
T-1146.002: BreastTrue High Risk Panel Brochure (Physician)
Pathway Genomics classifies variants using
a 5-tier system. Likely Benign and Benign
variants are not reported.
Pathogenic | Mutations with known
clinical significance and demonstrated to
increase the risk of cancer
Likely Pathogenic | Genetic changes that
have some preliminary clinical data
suggesting an association with cancer
but not sufficient to make a definitive
determination of pathogenicity and
associated cancer risk
Uncertain Pathogenicity (VUS) |
Genetic changes with either conflicting
data or no supporting data, thus a
determination of pathogenicity cannot
be made
Likely Benign | Genetic changes with
strong but limited evidence to be
classified as benign and are not likely to
increase the risk for cancer
Benign | Genetic changes that are
previously reported and have sufficient
evidence to be classified as benign with
no clinical relevance
Additional Breast Cancer Testing Options
BRCATrue™ (BRCA1/2 NGS with del/dup)
BRCATrue™ Ashkenazi Jewish (3-Site)
Single Site Testing
Reflex Options
BRCATrue™ Ashkenazi Jewish (3-Site)
with reflex to BRCATrue™
BRCATrue™ with reflex to BreastTrue™