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Test ID: CHEKZ CHEK2 Gene, Full Gene Analysis

Useful For

Evaluation for hereditary susceptibility to breast cancer or Li-Fraumeni-like syndrome


Identification of a familial CHEK2 mutation to allow for predictive testing in family members

Additional Tests

Test ID Reporting Name Available Separately Always Performed
COLAB Hereditary Colon Cancer CGH Array Yes, (order FMTT) Yes

Testing Algorithm

When this test is ordered, CGH array will always be performed at an additional charge.

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

CHEK2 Gene, Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

Clinical Information

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome associated with germline mutations in the TP53 (also p53) gene. LFS is predominantly characterized by sarcoma (osteogenic, chondrosarcoma, rhabdomyosarcoma), young-onset breast cancer, brain cancer (glioblastoma), hematopoietic malignancies, and adrenocortical carcinoma in affected individuals. LFS is highly penetrant; the risk for developing an invasive cancer is 50% by age 30 and 90% by age 70 with many individuals developing multiple primary cancers. Childhood cancers are also frequently observed and typically include soft-tissue sarcomas, adrenocortical tumors, and brain cancer. Other reported malignancies include melanoma, Wilms tumor, kidney tumors, gonadal germ cell tumor, pancreatic cancer, gastric cancer, choroid plexus cancer, colorectal cancer, prostate cancer, endometrial cancer, esophageal cancer, lung cancer, ovarian cancer, and thyroid cancer. Germline mutations in the CHEK2 gene have also been described in families with Li-Fraumeni-like (LFL) syndrome, which is characterized by similar tumor types but is associated with less stringent clinical criteria than Li-Fraumeni syndrome.


Several studies have demonstrated an increased risk for breast cancer associated with founder mutations in CHEK2 (eg, c.1100delC). Two recent studies, a large association study(1) and a meta-analysis,(2) demonstrated an odds ratio of 2.7 to 3.6 for breast cancer in unselected breast cancer patients (without a family history) and an odds ratio of 4.8 to 5.0 for individuals with a family history of breast cancer in a first- and second-degree relative. This suggests a moderate increase in breast cancer risk in women with a truncating CHEK2 mutation without a family history of breast cancer. These studies also suggest that truncating CHEK2 mutations are modifiers of breast cancer risk in the context of a positive family history of breast cancer. Some studies have also suggested an increased risk for colorectal cancer associated with germline CHEK2 mutations; however, other studies have suggested that CHEK2 is not a major contributor to colorectal cancer risk.


This test uses array comparative genomic hybridization (aCGH) to test for the presence of large deletions and duplications.

Reference Values

An interpretive report will be provided.


All detected alterations are evaluated according to American College of Medical Genetics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Cybulski C, Wokolorcyzk D, Jakubowska A, et al: Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 2011;29:3747-3752

2. Weischer M, Bojesen SE, Ellervik C, et al: CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008;26:542-548

3. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

4. Lindor NM, McMaster ML, Lindor CJ, et al: Concise handbook of familial cancer susceptibility syndromes. Second edition. J Natl Cancer Inst Monogr 2008;(38):1-93

Day(s) and Time(s) Performed

Performed weekly, Varies

Analytic Time

14 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology code


Hereditary Colon Cancer CGH Array

81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHEKZ CHEK2 Gene, Full Gene Analysis In Process


Result ID Test Result Name Result LOINC Value
52496 Result Summary 50397-9
52497 Result 72518-4
52498 Interpretation 69047-9
52499 Additional Information 48767-8
52500 Specimen 31208-2
52501 Source 31208-2
52502 Array Billed? No LOINC Needed
52503 Released By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: