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Hereditary Breast Cancer via the CHEK2 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CHEK2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7399CHEK281479 81479,81479 $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.


Genetic Counselors


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

More than one million new cases of breast cancer occur each year worldwide, making it the most common malignancy among women. It is estimated that ~10% of these cases have a strong hereditary component. Hereditary breast cancer (HBC; OMIM 114480) refers to the familial occurrence of early-onset (prior to the age of 40), bilateral mammary carcinomas. Importantly, tumors from individuals with HBC tend to be of a much higher histological grade when first detected, than tumors from sporadic age-matched breast cancer controls (Honrado et al. Modern Pathology 18:1305-1320, 2005). As a result, survival rate after treatment is two-fold lower for patients with HBC compared to those with sporadic breast cancer (Lonning et al. Ann Oncol 18:1293-1306, 2007). Thus, identifying individuals with a high risk for developing HBC allows for early detection of tumor formation in these individuals and is predicted to increase the rate of patient survival.


Variants in a number of genes have been reported to significantly increase an individual’s likelihood for developing breast cancer (reviewed by Tan et al. J Clin Pathol 61:1073-1082, 2008). Among those, germline variants in the breast cancer genes BRCA1 and BRCA2 appear to provide the highest relative risk, ~10- to 20-fold. Early-onset breast cancer is also a major component of the Li-Fraumeni Syndrome (LFS; OMIM 151623), and variants in the LFS-associated gene TP53 also provide a 10- to 20-fold increased risk for developing bilateral mammary carcinomas in addition to other cancers. Variants in the CHEK2 gene (OMIM 604373) were also reported to cause a Li-Fraumeni-like syndrome (Bell et al. Science 286:2528-2531, 1999), although subsequent studies have indicated that CHEK2 variants are only very rarely found in patients with classic symptoms of LFS (Lee et al. Cancer Res 61:8062-8067, 2001). However, variants in CHEK2 have been frequently found in patients who have hereditary breast cancer (HBC) but do not have detectable BRCA1 or BRCA2 variants (Vahteristo et al. Am J Hum Genet 71:432-438, 2002; Meijers-Heijboer et al. Am J Hum Genet 72:1308-1314, 2003), indicating CHEK2 variants likely contribute to a significant fraction of non-BRCA1/2 hereditary breast carcinomas. CHEK2 encodes a protein kinase that protects the genome from ionizing radiation and genotoxic insults. To date, approximately 40 variants have been reported throughout the CHEK2 gene, and >95% are detectable by this DNA sequencing test (Human Gene Mutation Database, www.hgmd.cf.ac.uk).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to detect pathogenic variants in ~6% of women with non-BRCA1/2 Hereditary Breast Cancer (Nevanlinna & Bartek Oncogene 25:5912-5919, 2006).

Testing Strategy

This test provides full coverage of all coding exons of the CHEK2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

This test is recommended for individuals diagnosed with early-onset bilateral mammary carcinomas and a family history of breast cancer and/or sarcomas, particularly those who do not have a detectable variant in the BRCA1, BRCA2, or TP53 genes. This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.


Official Gene Symbol OMIM ID
CHEK2 604373
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Familial Cancer Of Breast AD 114480

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  • Bell, D. W., et.al. (1999). "Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome." Science 286(5449): 2528-31. PubMed ID: 10617473
  • Honrado, E., et.al. (2005). "The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications." Mod Pathol 18(10): 1305-20. PubMed ID: 15933754
  • Human Gene Mutation Database.
  • Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, Li FP, Nichols KE. 2001. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer research 61: 8062–8067. PubMed ID: 11719428
  • Lonning, P. E., et.al. (2007). "Breast cancer prognostication and prediction in the postgenomic era." Ann Oncol 18(8): 1293-306. PubMed ID: 17317675
  • Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, Bos R van den, Snoo A de, Fat GTA, Brekelmans C, Jagmohan S, et al. 2003. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am. J. Hum. Genet. 72: 1308–1314. PubMed ID: 12690581
  • Nevanlinna, H., Bartek, J. (2006). "The CHEK2 gene and inherited breast cancer susceptibility." Oncogene 25(43): 5912-9. PubMed ID: 16998506
  • Tan DSP, Marchio C, Reis-Filho JS. 2008. Hereditary breast cancer: from molecular pathology to tailored therapies. Journal of Clinical Pathology 61: 1073–1082. PubMed ID: 18682420
  • Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, et al. 2002. A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer. American Journal of Human Genetics 71: 432. PubMed ID: 12094328


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