Quest Diagnostics CHEK2 Genetic Insights Test User Guide

: June 12, 2024
: Quest Diagnostics

Table of Contents

Quest Diagnostics CHEK2 Genetic Insights Test
Cancer risk
Management options
References
References
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Quest Diagnostics CHEK2 Genetic Insights Test

Key results
A variant was found in the CHEK2 gene that is associated with an increased risk of breast cancer in females, prostate cancer in males, colon cancer, and possibly certain other cancers.

Next steps

Quest Diagnostics CHEK2 Genetic Insights Test 1

Patient conversation starters:
Patient conversation starters summarize the preceding information in plain language to support meaningful conversations between you and your patient.
FindAGeneticCounselor.NSGC.org

Your Genetic Insights test is a screening test. The next step is to have your result confirmed with a second genetic test.
It’s also important that you talk with a genetic counselor. Genetic counselors are experts in genetics and can help you understand this result and potential next steps.
You can access a genetic counselor through your online Genetic Insights dashboard at no additional cost to you, and we can discuss a referral to a local genetic counselor.

What is CHEK2-associated hereditary cancer?
DNA variants in the CHEK2 gene are associated with a higher lifetime risk of certain cancers, often with an earlier age of onset than the general population.1,2
However, cancer risks may vary based on family history, the specific DNA variant identified, and other factors.
People with a confirmed CHEK2 DNA variant are recommended to undergo more frequent cancer screening, typically starting at earlier ages than in the general population.2
See the Management options section for more detail.

What this result means for family members
Family members may have the same DNA variant. The DNA variant was most likely inherited from a parent. Full siblings and children have a 50% chance of having this variant.
In people with a confirmed DNA variant in the CHEK2 gene, cascade genetic testing for other family members 18 years and older may help inform their risks and screening protocols.
A genetic counselor can help determine the most appropriate testing options. Therefore, it is strongly recommended that people share their results with their biological relatives.

Patient conversation starters:
Your test showed a DNA variant in the CHEK2 gene. People with a variant have a higher chance of developing certain types of cancer in their lifetime.
Not everyone with a variant develops cancer. The type of cancer and the risk of cancer can vary based on personal or family health history and the specific DNA variant in the CHEK2 gene.
People with a DNA variant in the CHEK2 gene should have screenings earlier in life and more often than typical. This increases the chance that if cancer develops, it’s detected as early as possible.

Patient conversation starters:
DNA variants in the CHEK2 gene run in families. That means the DNA variants can be inherited or passed down from parents to their children.
Your close relatives, like your parents, full siblings, and children, have a 50% (or 1 in 2) chance of having the same DNA variant. Other relatives might also have the same DNA variant.
Sharing this result with your family members is important so that they can talk to a healthcare provider about genetic testing for CHEK2 DNA variants.

Cancer risk

Select cancer risks in people with a confirmed CHEK2 DNA variant are listed below. However, research is ongoing to better understand the cancer types linked to variants in the CHEK2 gene and the associated risks. Therefore, this risk information may change over time.

Cancer type

| Approximate lifetime risk in people with a

CHEK2 variant

|

Approximate lifetime risk in the general population

---|---|---
Assigned female at birth:
Breast| 20%-44%2,11| 13%5
Assigned male at birth:
Prostate| Up to 40%10| 12.1%7
Breast| About 0.5%3| 0.1%1
Males and females:
Colon| Up to 8%4| 4%6

Management options

There are options for cancer risk management for people with a DNA variant in the CHEK2 gene. Clinical guidelines from the National Comprehensive Cancer Network® (NCCN®) for people with a confirmed CHEK2 DNA variant and no personal history of an associated cancer are listed below.8,9
However, screening and management should consider the variable cancer risks depending on the specific CHEK2 variant identified.8,9

Cancer type| Guidelines for people with a CHEK2 DNA variant|

Patient conversation starters:

It’s recommended that people with a DNA variant have cancer screenings earlier and more often than typical. This way, cancer is more likely to be caught in the early stages when it is most treatable. If your test result is confirmed, it is important to work with the right specialists—like

a medical oncologist and a geneticist—to find cancer screening options that are right for you.

---|---|---
Breast (assigned female at birth)| Annual mammogram starting at age 40 years (or earlier based on family history)

Consider breast MRI with contrast starting at age 30-35 years (or earlier based on family history)

Discuss option of risk-reducing options based on family history

Colon| For individuals with a first-degree relative with colorectal cancer , colonoscopy screening every 5 years, beginning at age 40 or 10 years prior to age of first-degree relative’s age at colorectal cancer diagnosis, whichever is earlier

For individuals with no known family history of colorectal cancer, colonoscopy screening every 5 years beginning at age 40

Prostate| No recommended changes to standard cancer screening at this time

Recommendations may change over time.

Additional resources
The following patient advocacy groups have additional information and resources about CHEK2-associated hereditary cancer:
Facing Our Risk of Cancer Empowered (FORCE): FacingOurRisk.org

References

American Cancer Society. Key Statistics for Breast Cancer in Men. Accessed December 15, 2022.
https://www.cancer.org/cancer/breast-cancer-in-men/about/key-statistics.html
Cybulski C, Wokołorczyk 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(28):3747-3752. doi:10.1200/JCO.2010.34.0778
Hallamies S, Pelttari LM, Poikonen-Saksela P, et al. CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC Cancer. 2017;17(1):620. doi:10.1186/s12885-017-3631-8
Ma X, Zhang B, Zheng W. Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Gut. 2014;63(2):326-336. doi:10.1136/gutjnl-2012-304121
National Cancer Institute. Cancer Stat Facts: Female Breast Cancer. Accessed May 2020. https://seer.cancer.gov/statfacts/html/breast.html
National Cancer Institute: Surveillance, Epidemiology, and End Results Program. Cancer Stat Facts: Colorectal Cancer. Accessed December 15, 2022.
https://seer.cancer.gov/statfacts/html/colorect.html
National Cancer Institute: Surveillance, Epidemiology, and End Results Program. Cancer Stat Facts: Prostate Cancer. Accessed December 15, 2022.
https://seer.cancer.gov/statfacts/html/prost.html
National Comprehensive Cancer Network®. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 1.2023). Accessed December 15, 2022. https://www.nccn.org
National Comprehensive Cancer Network®. Genetic/Familial High-Risk Assessment: Colorectal (Version 2.2022). NCCN Guidelines®. Accessed December 15, 2022. www.nccn.org
Wang Y, Dai B, Ye D. CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. Int J Clin Exp Med. 2015;8(9):15708-15715.
https://www.ncbi.nlm.nih.gov/pubmed/26629066
Yang Y, Zhang F, Wang Y, Liu SC. CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls. Asian Pac J Cancer Prev. 2012;13(7):3501-3505. doi:10.7314/apjcp.2012.13.7.3501

This information is not a substitute for medical advice, diagnosis, or treatment. The diagnosis or treatment of any disease or condition may be based on personal history, family history, symptoms, a physical examination, laboratory test results, and other information considered important by a healthcare provider.

Individuals should talk with a healthcare provider about the meaning of genetic test results and before stopping, starting, or changing any medication or treatment.
Genetic Insights is a test developed and performed by Quest Diagnostics. The test results are not diagnostic and do not determine overall chances of developing a disease or health condition. The tests are not cleared or approved by the US Food and Drug Administration.

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