Download BRCA Gene Panel - Otogenetics Corporation

L a rg e -sca le ta rg e te d NGS se quencing m ade easy & a ffordable.
BRCA Gene Panel
Preface:
The most common of all cancers to affect women is breast cancer,
with as many as one-in-eight women contracting it during their
lifetime. Breast cancer is a complex disease with many causes,
however we do know that approximately 10% of all cases are
due to an individual’s DNA mutation.
These hereditary mutations commonly result in the early-onset
of breast cancer, recurrent breast cancer and breast cancer
involving both breasts.
Approximately 25-50% of hereditary breast and ovarian cancer
cases can be explained by mutations in the BRCA1 and BRCA2
genes.
A comprehensive hereditary breast and ovarian cancer risk
assessment should include germline sequencing of the BRCA1
and BRCA2 genes as well as additional key genes with a known
association of breast/ovarian cancer.
Individuals with a suspected inherited genetic cancer risk
detected in the Breast Cancer Panel will have a clinical advantage
to affect patient medical management, guide preventative
measures, direct surgical options and estimate personal and
familial cancer risk.
Methodology:
The Otogenetics Breast Cancer Panel is performed by next
generation sequencing using custom oligonucleotide-based
target capture followed by Illumina HiSeq sequencing of the
coding regions of the Breast Cancer panel genes; with >100
fold of average coverage and no gap in the capture of targeted
genes. Clinically significant variants are identified and reported.
Results:
Each Otogenetics Breast Cancer Panel report includes a detailed
explanation of all clinically-relevant variants.
Breast Cancer gene panel & other disease panel reagent kits also
available. Visit www.otogenetics.com to learn more.
The Otogenetics Breast Cancer Panel allows the clinician or
researcher to sequence 19 genes known to be high-risk breast
cancer susceptibility genes (see back for gene list).
Testing Rationale:
The Otogenetics Breast Cancer Panel allows the identification of
the specific risk or cause factor for breast cancer in the patient,
thus aid in eliminating unnecessary testing.
This is an important part of a comprehensive cancer risk evaluation, and identification of a specific genetic mutation provides
important information for at-risk patients, including those with
the following:




Two primary breast cancers or clustering of breast and
ovarian cancer.
Early-onset breast cancer (<50 years-of-age) or bilateral
breast cancer.
Presence of male breast cancer.
Ovarian cancer at any age.
Test Name:
BRCA
Turn-Around-Time:
Approximately 5-6 weeks
Specimen Requirement:
5 mL whole blood, or by saliva collection kit.
4553 Winters Chapel Rd. #100, Atlanta, GA 30360 USA • [email protected] • +1-855-686-4363 • www.otogenetics.com
BRCA Gene Panel
Gene
OMIM
Target*
Description
(Online Mendelian
Inheritance in Man)
AR
Coding regions
313700
Androgen receptor
ATM
Coding regions
607585
Serine-protein kinase ataxia telangiectasia mutated
BARD1
Coding regions
601593
BRCA associated RING domain 1
BRCA1
Coding regions
113705
Breast cancer 1, early onset
BRCA2
Coding regions
600185
Breast cancer 2, early onset
BRIP1
Coding regions
605882
BRCA1-interacting protein
CASP8
Coding regions
601763
Apoptosis-related cysteine protease 8
CDH1
Coding regions
192090
Cadherin 1
CHEK2
Coding regions
604373
Serine/threonine checkpoint kinase 2
DIRAS3
Coding regions
605193
GTP-binding Ras-like protein 3
ERBB2
Coding regions
164870
Avian erythroblastic leukemia viral oncogene homolog 2
NBN
Coding regions
602667
Nibrin
PALB2
Coding regions
601355
Partner and localizer of BRCA2
PTEN
Coding regions
601728
Phosphatase and tensin
RAD50
Coding regions
604040
DNA repair protein RAD50 homolog
RAD51
Coding regions
179617
DNA repair protein RAD51A homolog
STK11
Coding regions
602216
Serine/threonine protein kinase 11
TGFB1
Coding regions
190180
Transforming growth factor β1
TP53
Coding regions
191170
Tumor protein p53
* Flank with 5-10bP
2 hours
2 hours
3 days
2.5 hours
2 hours
2 hours

Proceed to Sequencing via Illumina
HiSeq/MiSeq

Assess Enrichment Using qPCR
(Oto-BRCA-Primer)

Amplify Captured DNA (Oto-Enrich-001)

Wash and Recover Captured DNA
(Oto-Enrich-001)

Hybridize Samples to Oto-BrCa-Probe
(Oto-BRCA-Probe)
4 hours

Pooling of Amplified Multiplex DNA
Libraries
TIME

DNA Library Amplification Using LM-PCR
(Oto-DLP-001)
STEP
DNA Fragmentation, End Repair, Tailing,
Ligation (Oto-DLP-001)
TotSeq™ Targeted Human BRCA Genes Sample Preparation Flowchart
27 hours
or
10 days
Copyright 2015 by Otogenetics Corporation. Products and specifications are subject to review and change without notice.
4553 Winters Chapel Rd. #100, Atlanta, GA 30360 USA • [email protected] • +1-855-686-4363 • www.otogenetics.com
081315
For Research Use Only