Quest Diagnostics Palb2 Associated Hereditary Cancer User Guide (+ PDF)

Contents hide

PALB2 Associated Hereditary Cancer

Product Information:
The Genetic Insights test is a screening test designed for
healthcare providers and their patients. It provides insights into
genetic variants associated with hereditary cancer, specifically
focusing on the PALB2 gene. The test identifies a DNA variant in
the PALB2 gene that is associated with an increased risk of breast
cancer in both females and males. Additionally, there may be an
increased risk for pancreatic and ovarian cancer. Product Usage
Instructions:
1. The Genetic Insights test is a screening test and is not
intended for diagnosis. It is recommended to follow up with a
second genetic test in a clinical setting before taking any further
action. 2. If you have any questions or need assistance, you can
call 1.866.GENE.INFO (1.866.436.3463) to speak to a specialized
Quest genetic counselor or geneticist. They are available to
healthcare providers to discuss test selection and results. 3. It
is important to refer your patient to a genetic counselor
specializing in hereditary cancer. Your patient can schedule a
1-on-1 remote genetic counseling session through their online
Genetic Insights Cancer Risk Report at no additional cost. Genetic
counselors can provide counseling on the implications of the test
result and guide the next steps for your patient. 4. To find a
genetic counselor with expertise in hereditary cancer genetics
practicing in your patient’s area for an in-person session, please
visit FindAGeneticCounselor.NSGC.org. 5. Patient conversation
starters are provided to support meaningful conversations between
you and your patient. These conversation starters summarize the
information in plain language and emphasize the importance of
confirming the test result with a second genetic test and
consulting with a genetic counselor. 6. PALB2-associated hereditary
cancer is caused by a DNA variant in the PALB2 gene. People with
this variant have a higher than typical chance of developing
certain cancers, especially breast cancer. It’s important to note
that not everyone with the DNA variant will develop cancer. People
with this variant should undergo more frequent and earlier cancer
screenings compared to the general population. 7. Family members
should be informed about the test result and its implications. They
may also consider undergoing genetic testing to assess their own
risk. 8. For more information about the Genetic Insights test, you
can visit QuestDiagnostics.com/Genetic-Health-Screening. Please
note that this response is for informational purposes only and
should not replace professional medical advice.

View Fullscreen

Genetic Insights: quick reference guide for healthcare providers
This guide is intended to facilitate a discussion between a provider and their patient.
Genetic Insights test results: PALB2-associated hereditary cancer

Key results
A DNA variant associated with an increased risk of breast cancer in females and males was found in the PALB2 gene. Risks for pancreatic and ovarian cancer may also be increased.

Next steps

Clinical recommendations
Genetic Insights is a screening test and is not intended for diagnosis. A follow-up genetic test should be performed in a clinical setting before any other action is taken.

Resources
Ready to order? Check with your institution and/or patient’s insurance about the preferred testing laboratory. Blueprint Genetics® offers hereditary cancer testing. To confirm this test result, targeted variant testing for the variant identified is available. You can order a confirmation test here: Blueprint Genetics/TVT
Have questions? Call 1.866.GENE.INFO (1.866.436.3463) to speak to a specialized Quest genetic counselor or geneticist available to healthcare providers to discuss test selection and results.

Refer your patient to a genetic counselor specializing in hereditary cancer.

Your patient can schedule a 1-on-1 remote genetic counseling session through their online Genetic Insights Cancer Risk Report at no additional cost.

Genetic counselors can provide counseling on the implications of this test result and next steps for your patient.

To find a genetic counselor with expertise in hereditary cancer genetics practicing in your patient’s area for an in-person session, please visit FindAGeneticCounselor.NSGC.org

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.

Visit QuestDiagnostics.com/Genetic-Health-Screening for more information about this test.

What is PALB2-associated hereditary cancer?
DNA variants in the PALB2 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 PALB2 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.

Patient conversation starters:
PALB2-associated hereditary cancer is caused by a DNA variant in the PALB2 gene.
People with PALB2-associated hereditary cancer have a higher than typical chance of developing certain cancers, especially breast cancer. Not everyone with a DNA variant will develop cancer.
People with this variant should have cancer screenings earlier in life and more often than typical. This increases the chance that if cancer develops, it’s found as soon as possible.

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.¹
In people with a confirmed DNA variant in the PALB2 gene, cascade genetic testing for other family members 18 years and older may help inform their risks and screening protocols.²
Children of biological parents who both have a DNA variant in the PALB2 gene are at risk for having a genetic condition called Fanconi anemia.²
A genetic counselor can help determine the most appropriate testing options for family members.
Therefore, it is strongly recommended that people share their results with their biological relatives and reproductive partners.

Patient conversation starters:
The DNA variant in the PALB2 gene runs in families. It can be inherited or passed down from parents to their children.
Your close relatives, like your parents, full siblings, and children each have a 50% (or 1 in 2) chance of having the same DNA variant.
Other relatives might also have the same DNA variant. Sharing these results with your family is important so family members can decide if they want to have genetic testing.

Cancer risk
Select estimated cancer risks in people with a confirmed variant in the PALB2 gene compared to the general population are included below. Individual cancer risks may be higher or lower depending on the specific variant identified in addition to personal and family health history. Associated cancers and risks may change over time as medical research advances.

Cancer type
Assigned female at birth: Breast Ovarian Assigned male at birth: Breast Males and females: Pancreas

Approximate risk by age 80 with PALB2 variant
Up to 60%1-3 Up to 5%1
1%1
2%-3%¹

General population risk
13%4 1.2%5 0.1%6 1.6%7

Management options
There are options for cancer prevention and early detection for people with a confirmed PALB2 DNA variant. Select clinical guidelines from the National Comprehensive Cancer Network® (NCCN®) for people with a confirmed PALB2 DNA variant and no personal history of an associated cancer include2:

Cancer type
Breast (assigned female at birth)

Guidelines for people with PALB2 DNA variant
Annual mammogram and breast MRI at age 30 (or earlier based on family history) Discuss option of risk-reducing mastectomy

Breast (assigned male at birth)
Ovarian
Pancreatic

Males should discuss management with a hereditary cancer specialist. There are currently no evidenced-based recommendations for breast cancer screening in males
Discuss management based on family history and consider risk reduction options
Consider pancreatic cancer screening based on family history

Patient conversation starters:
It’s recommended that people with a DNA variant in the PALB2 gene have cancer screenings earlier and more often than typical. This way, cancer is more likely to be caught in the early stages when it’s most treatable. If your result is confirmed, it’s important to work with the right specialists, like a medical oncologist and a geneticist, to find cancer screening and risk-reducing options that are right for you.

See NCCN for complete recommendations. Recommendations may change over time. If the test result is confirmed, local centers for excellence in hereditary cancer should be consulted for further clinical management.

Additional resources
The following patient advocacy groups have additional information and resources about hereditary cancer risk: Facing Our Risk of Cancer Empowered (FORCE): FacingOurRisk.org Susan B. Komen Foundation: Komen.org Foundation for Women’s Cancer: FoundationForWomensCancer.org
References
1. Yang X, Leslie G, Doroszuk A, et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol. 2020;38(7):674-685. doi:10.1200/JCO.19.01907
2. National Comprehensive Cancer Network®. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 3.2023). Accessed February 15, 2023. www.nccn.org
3. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497-506. doi:10.1056/NEJMoa1400382
4. National Cancer Institute. Cancer Stat Facts: Female Breast Cancer. Accessed August 12, 2022. https://seer.cancer.gov/statfacts/html/breast.html 5. National Cancer Institute. Cancer Stat Facts: Ovarian Cancer. Accessed August 12, 2022. https://seer.cancer.gov/statfacts/html/ovary.html 6. American Cancer Society. Key Statistics for Breast Cancer in Men. Accessed August 12, 2022.
https://www.cancer.org/cancer/breast-cancer-in-men/about/key-statistics.html 7. National Cancer Institute. Cancer Stat Facts: Pancreatic Cancer. Accessed August 12, 2022. https://seer.cancer.gov/statfacts/html/pancreas.html
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.
QuestDiagnostics.com
Quest, Quest Diagnostics, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks–® and TM–are the property of their respective owners. © 2023 Quest Diagnostics Incorporated. All rights reserved. MI12005 3/2023

Quest Diagnostics Palb2 Associated Hereditary Cancer User Guide

PALB2 Associated Hereditary Cancer

References

Documents / Resouces

Related Manuals