CHEK2-related Cancer

Mutations in the CHEK2 gene are associated with an increased risk of developing many types of cancer, including breast, colon, prostate, and other cancers.
Quick Reference
Test Code: 4982 Test Name: CHEK2 specific site analysis TAT: 7-14 days Genes: 1
Test Code: 9016 Test Name: CHEK2 seq and del/dup TAT: 14-21 days Genes: 1

Ordering Options

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.

Order Now

Why Is This Important?

  1. Option to modify frequency and initial age of mammogram/breast MRI or other screening as appropriate 
  2. Identify at-risk family members 

When To Consider Testing

  •  Personal and/or family history suggestive of hereditary breast cancer.
    • These individuals may have previously tested negative for BRCA1/2 mutations or may be considering BRCA1/2 genetic testing
  • Personal and/or family history of CHEK2-related cancers
  • Relative with a known CHEK2 mutation

Mutation Detection Rate

CHEK2 gene mutation account for up to: 5% of patients affected with familial breast cancer; 8.8% of patients with bilateral breast cancer; 18.2% of patients with hereditary breast and colorectal cancer family history; 4% of patients with prostate cancer (clinical sensitivity).

Ambry's CHEK2 analysis can detect >99% of described mutations in the gene, when present (analytic sensitivity).

Test Description

CHEK2 coding exons 1-14 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons 1-14. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of CHEK2 using read-depth from NGS data is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or multiplex ligation-dependent probe amplification (MLPA).

View Full Menu

Search Results

Start your search...