Breast Cancer - Expanded Risk Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5435 ATM 81408,81479 Order Options and Pricing
BARD1 81479,81479
BMPR1A 81479,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
CDH1 81406,81479
CHEK2 81479,81479
FANCC 81479,81479
FANCM 81479,81479
MRE11 81479,81479
NF1 81408,81479
PALB2 81307,81479
PTEN 81321,81323
RAD50 81479,81479
RAD51C 81479,81479
RAD51D 81479,81479
RECQL 81479,81479
STK11 81405,81404
TP53 81405,81479
XRCC2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5435Genes x (21)81479 81162(x1), 81307(x1), 81321(x1), 81323(x1), 81404(x1), 81405(x2), 81406(x1), 81408(x2), 81479(x29) $540 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

This panel analyzes 21 breast cancer susceptibility genes. BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53, and STK11 are considered high-risk genes. ATM, BARD1, BMPR1A, CHEK2, NF1, RAD51C, and RAD51D are considered moderate-risk genes. Pathogenic germline variants in high-risk genes may confer up to or greater than a 60% lifetime risk of breast cancer (Mavaddat et al. 2013. PubMed ID: 23628597; Mai et al. 2016. PubMed ID: 27496084; Xicola et al. 2019. PubMed ID: 31296550; Wendt and Margolin. 2019. PubMed ID: 30606073). Pathogenic germline variants in moderate-risk genes may confer approximately 15% to 40% lifetime risk of breast cancer (Marabelli et al. 2016. PubMed ID: 27112364; Uusitalo et al. 2016. PubMed ID: 26926675; Hu et al. 2020. PubMed ID: 32091585; Dorling et al. 2021. PubMed ID: 33471991). Medical society guidelines are available for high- and moderate-penetrance genes included on this panel (Wendt and Margolin. 2019. PubMed ID: 30606073; Pluchino and D'Amico. 2020. PubMed ID: 32298647).

This panel also assesses several emerging genes that may confer an increased lifetime risk of breast cancer compared to the 12.9% lifetime risk observed in the general population (National Cancer Institute, SEER Program). However, for many of these genes absolute risk of breast cancer has not been defined. These genes include BRIP1, FANCC, FANCM, MRE11, RAD50, RECQL, and XRCC2.

Most of the genes on this panel are associated with early-onset breast cancer (≤45 years of age), bilateral or multiple primary breast cancers, early-onset ovarian cancer (including fallopian tube and primary peritoneal cancers), male breast cancer, or a family history of breast or other early onset cancers. Variants in some genes are also more frequent in individuals of Ashkenazi Jewish ancestry (Pruthi et al. 2010. PubMed ID: 21123638; Petrucelli et al. 2022. PubMed ID: 20301425). Genetic testing of highly, moderately, and mildly penetrant genes may inform genetic counseling, screening, prevention strategies, and treatment, as well as identify at-risk family members (Manahan et al. 2019. PubMed ID: 31342359; Pluchino and D'Amico. 2020. PubMed ID: 32298647).

The genes included on this panel may be associated with susceptibility to other cancers as well as rare cancer syndromes that may include increased risk of breast cancer. Several genes on this panel are also associated rare autosomal recessive conditions that may pose a risk to offspring if an individual’s partner is also a carrier.

Genetics

Hereditary cancers associated with genes on this panel typically have an early age of onset and display autosomal dominant inheritance, although penetrance is incomplete. Several of the genes on this panel are also associated with rare autosomal recessive cancer syndromes. Most pathogenic variants in these genes are inherited from one or both parents. In some instances, pathogenic variants may arise de novo (PTEN and TP53, for example).

The genes on this panel are involved in DNA repair, cell cycle checkpoint regulation, maintenance of genomic stability, and other biological functions (Lee and Muller. 2010. PubMed ID: 20719876).

See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PG-Select

The prevalence of germline BRCA1 or BRCA2 pathogenic variants in the general population is 1:400 to 1:500 (Petrucelli et al. 2022. PubMed ID: 20301425). Certain ancestral populations have significantly elevated prevalence rates for BRCA1 and BRCA2, such as the Ashkenazi Jewish population (1:40) and the Inuit population from Ammassalik, Greenland (1:10 to 1:100) (Petrucelli et al. 2022. PubMed ID: 20301425). Pathogenic variants in genes other than BRCA1 and BRCA2 are often tested selectively. Although individually these genes may be involved in a minority of inherited breast cancer genes, the combination of high- and moderate-risk genes may be responsible for a significant portion of hereditary breast cancer (Turnbull and Rahman. 2008. PubMed ID: 18544032).

Testing Strategy

This test is performed using Next Generation Sequencing (NGS) with additional Sanger sequencing as necessary.

This panel typically provides approximately 99.7% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. Coverage is defined as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Testing may be considered for individuals with:

  • Early onset breast cancer (≤45 years of age)
  • Early onset ovarian cancer (including fallopian tube and primary peritoneal cancers)
  • Bilateral or multiple primary breast cancers
  • Male breast cancer
  • With breast cancer of Ashkenazi Jewish ancestry
  • A family history of hereditary cancer

This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

This is a predictive test which only provides information regarding the likelihood of breast cancer (or other types of cancer). A positive test does not mean that a person will develop breast cancer. A negative test does not mean that a person will not.

Genes

Official Gene Symbol OMIM ID
ATM 607585
BARD1 601593
BMPR1A 601299
BRCA1 113705
BRCA2 600185
BRIP1 605882
CDH1 192090
CHEK2 604373
FANCC 613899
FANCM 609644
MRE11 600814
NF1 613113
PALB2 610355
PTEN 601728
RAD50 604040
RAD51C 602774
RAD51D 602954
RECQL 600537
STK11 602216
TP53 191170
XRCC2 600375
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
PGxome®
Cancer Panel
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Panel
Hereditary Breast and Ovarian Cancer BRCA1/2 Panel

Citations

  • Dorling et al. 2021. PubMed ID: 33471991
  • Hu et al. 2020. PubMed ID: 32091585
  • Lee and Muller. 2010. PubMed ID: 20719876
  • Mai et al. 2016. PubMed ID: 27496084
  • Manahan et al. 2019. PubMed ID: 31342359
  • Marabelli et al. 2016. PubMed ID: 27112364
  • Mavaddat et al. 2013. PubMed ID: 23628597
  • Petrucelli et al. 2022. PubMed ID: 20301425
  • Pluchino and D'Amico. 2020. PubMed ID: 32298647
  • Pruthi et al. 2010. PubMed ID: 21123638
  • Turnbull and Rahman. 2008. PubMed ID: 18544032
  • Uusitalo et al. 2016. PubMed ID: 26926675
  • Wendt and Margolin. 2019. PubMed ID: 30606073
  • Xicola et al. 2019. PubMed ID: 31296550

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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