Breast Cancer - High / Moderate Risk Panel
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 5433 | Genes x (14) | 81479 | 81162(x1), 81307(x1), 81321(x1), 81323(x1), 81404(x1), 81405(x2), 81406(x1), 81408(x2), 81479(x15) | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
Clinical Features and Genetics
Clinical Features
This panel analyzes 14 clinically actionable breast cancer susceptibility genes. Medical society guidelines are available for all the genes included on this panel (Wendt and Margolin. 2019. PubMed ID: 30606073; Pluchino and D'Amico. 2020. PubMed ID: 32298647). 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).
The genes on this panel are typically 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 individuals with a clinical indication for hereditary breast cancer in high- and moderate-penetrance 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 et al. 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 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 (ATM, BARD1, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53). Several of the genes on this panel are also associated with rare autosomal recessive cancer syndromes (i.e. ATM, BRCA1, BRCA2, PALB2, and RAD51C). 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 100% 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.
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 |
| CDH1 | 192090 |
| CHEK2 | 604373 |
| NF1 | 613113 |
| PALB2 | 610355 |
| PTEN | 601728 |
| RAD51C | 602774 |
| RAD51D | 602954 |
| STK11 | 602216 |
| TP53 | 191170 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
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
- Pluchino et al. 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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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2) Select Additional Test Options
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