Genetic Testing for CHEK2 Mutations for Breast Cancer
Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018
DESCRIPTION
Mutations in the CHEK2 (checkpoint kinase 2) gene may be associated with a moderate risk of breast cancer. Testing for CHEK2 variants has been proposed for use in risk stratification in individuals with a family history consistent with hereditary breast cancer and for prognosis of breast cancer in individuals with breast cancer.
While some cancers associated with highly penetrant genes (e.g., BRCA1, BRCA2, PALB2) have established clinical management guidelines for individuals identified as having a pathogenic variant, there are no specific treatment recommendations for individuals testing positive for the CHEK2 variant beyond standard surveillance of breast self-exams and annual mammograms.
Note: This policy only addresses single-gene testing. CHEK2 may be included in breast cancer (hereditary) gene panels.
POLICY
Testing for CHEK2 genetic abnormalities (e.g., duplications, deletions) in the assessment of breast cancer risk is considered investigational.
IMPORTANT REMINDERS
Any specific products referenced in this policy are just examples and are intended for illustrative purposes only. It is not intended to be a recommendation of one product over another, and is not intended to represent a complete listing of all products available. These examples are contained in the parenthetical e.g. statement.
We develop Medical Policies to provide guidance to Members and Providers. This Medical Policy relates only to the services or supplies described in it. The existence of a Medical Policy is not an authorization, certification, explanation of benefits or a contract for the service (or supply) that is referenced in the Medical Policy. For a determination of the benefits that a Member is entitled to receive under his or her health plan, the Member's health plan must be reviewed. If there is a conflict between the Medical Policy and a health plan or government program (e.g., TennCare), the express terms of the health plan or government program will govern.
ADDITIONAL INFORMATION
Clinical management recommendations for breast cancer-associated genes with moderate penetrance, such as CHEK2, are not standardized, nor is it known if testing for CHEK2 variants will lead to improved health outcomes.
SOURCES
Aloraifi, F., McCartan, D., McDevitt, T., Green, A.J., Bracken, A. & Geraghty, J. (2015). Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. Cancer Genetics, 208 (9), 455-463. Abstract retrieved February 11, 2016 from PubMed database.
BlueCross BlueShield Association. Evidence Positioning System. (9:2023). Gremaline Genetic Testing for Gene Variants Associated with Breast Cancer in Individuals at High Breast Cancer Risk (CHEK2, ATM, and BARD1 (2.04.126). Retrieved October 2, 2023 from www.bcbsaoca.com/eps/. (61 articles and/or guidelines reviewed)
Li, J., Meeks, H., Feng, B., Healey, S., Thorne, H., Makunin, I. et al. (2016). Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. Journal of Medical Genetics, 53 (1), 34-42. (Level 3 evidence)
Massink, M., Kooi, I., Martens, J., Waisfisz, Q., & Meijers-Heijboer, H. (2015). Genomic profiling of CHEK2*1100delC-mutated breast carcinomas. BioMed Central, 15, 877. (Level 3 evidence)
National Comprehensive Cancer Network. (2.2024). NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/familial high-risk assessment: breast, ovarian, and pancreatic. Retrieved October 2, 2023 from the National Comprehensive Cancer Network.
Suszynska, M., Klonowska, K., Jasinska, A. J., & Kozlowski, P. (2019). Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes. Gynecologic Oncology, 153 (2), 452–462. (Level 1 evidence)
The American Society of Breast Surgeons. (2019, February). Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. Retrieved October 2, 2023 from https://www.breastsurgeons.org/docs/statements/Consensus-Guideline-on-Genetic-Testing-for-Hereditary-Breast-Cancer.pdf.
Weischer, M., Nordestgaard, B., Pharoah, P., Bolla, M., Nevanlinna, H., van’t Veer, L., et al. (2012). CHEK2 1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. Journal of Clinical Oncology, 30 (35), 4308-4316. (Level 2 evidence)
ORIGINAL EFFECTIVE DATE: 4/14/2011
MOST RECENT REVIEW DATE: 11/9/2023
ID_BA
Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.
This document has been classified as public information.