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.

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Test Code: 4982 Test Name: CHEK2 specific site analysis TAT 7-14 days Gene: 1
Test Code: 9016 Test Name: CHEK2 seq and del/dup TAT 14-21 days Gene: 1

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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. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio 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).

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generaltion sequencing panel testing. J Mol Diagn. 18(6):-932. 

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