02/22/2025
Hereditary Cancer Genetic Test Results
This report is intended to facilitate a discussion between providers and their patients.
INFORMATION FOR INDIVIDUALS WITH A PATHOGENIC OR
LIKELY PATHOGENIC VARIANT IN THE POLD1 GENE
What this result means
Individuals who have a pathogenic or likely pathogenic variant (sometimes called a mutation) in the POLD1
gene have a diagnosis of polymerase proofreading-associated polyposis (PPAP). Individuals with PPAP have
a higher-than-average chance to develop colorectal polyps, colorectal cancer (with or without polyposis),
and possibly endometrial cancer. The chance to develop these cancers is increased, but not everyone with a
pathogenic or likely pathogenic variant will develop cancer.
Cancer risk
Information about cancer risks related to pathogenic variants in POLD1 is still emerging and is likely to
change over time. Patients should be encouraged to check in with their doctor or genetic counselor on a
yearly basis so that any new information about this gene, such as associated risks and cancer screening
recommendations, can be shared.
Options for managing cancer risk
There are options for cancer prevention and early detection. The following are general guidelines for
individuals who have a POLD1 pathogenic variant. These guidelines are evolving and are not specific to
any one individual. Each individual’s gender, age, medical history, family history, quality of life goals,
reproductive desires, general health status, and other medical information should be taken into account
when developing a medical management plan.
Considerations for cancer
prevention/early detection
Colorectal Cancer
Colonoscopy
Surgical evaluation
Age to begin
25-30 years
Individualized based on polyp-burden
and clinical presentation
Frequency
Every 2-3 years or
every 1-2 years if polyps
are found
—
Source: National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk
Assessment: Colorectal. V1.2020. www.NCCN.org
What this result means for family members
Family members may have the same POLD1 variant that was identified in this individual. Parents, brothers,
sisters, and children may each have a 50% chance of having the same variant. Other blood relatives also
have an increased risk for the variant. It is important to share these test results with family members to
allow each of them to decide if they want to be tested. Some family members may only need testing for
this one POLD1 variant, while other relatives may need a more comprehensive test with multiple genes. A
genetic counselor or other healthcare provider can help determine the most appropriate testing options.
Reproductive information
Individuals interested in family planning should speak to their doctor and/or genetic counselor to discuss
reproductive options. This may include discussion of prenatal diagnosis or pre-implantation genetic testing.
Risk assessment and counseling: an important first step
A genetic counselor or other qualified healthcare professional can help explain test
results and what they mean for a patient and family members. A team of specialized
Quest genetic counselors is available to speak with healthcare providers about test
results by calling 1.866.GENE.INFO. Patients can access a directory of independent
genetic counselors at FindAGeneticCounselor.com.
Creating a plan: a checklist for patients
¨ Get a copy of your genetic test results.
¨ Talk with your healthcare provider about what this result means and the things you
can do to manage your risk.
¨ Ask your healthcare provider if additional genetic testing may benefit you.
¨ Share your test results with your family members and give them a copy. Their
healthcare provider will need this information in order to provide them with the
most accurate risk assessment.
¨ Talk with your healthcare provider regularly so that you know about any important
changes in genetic testing and cancer screening options. Be sure to let him/her
know of any changes in your family history, including family members’ genetic
test results.
¨ Consider talking to a genetic counselor about your results.
Research opportunities
Prospective Registry of MultiPlex Testing
(PROMPT) PromptStudy.info
GenomeConnect: The ClinGen Patient Portal
GenomeConnect.org
Additional resources
Hereditary Colon Cancer Takes Guts
hcctakesguts.org
Colorectal Cancer Alliance
ccalliance.org
National Colorectal Cancer Roundtable
nccrt.org
Quest Hereditary Cancer Testing Solutions
QuestHereditaryCancer.com
Genetic Information Nondiscrimination Act
(GINA) GINAhelp.org
National Society of Genetic Counselors
FindAGeneticCounselor.com
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. Always
talk with a healthcare provider about the meaning of genetic test results and before stopping, starting or changing any medication or treatment.
The classification and interpretation of the variant(s) identified reflect the current state of Quest Diagnostics’ understanding at the time of this report. Variant
classification and interpretation are subject to professional judgment, and may change for a variety of reasons, including but not limited to, updates in classification
guidelines and availability of additional scientific and clinical information. This test result should be used in conjunction with the healthcare provider’s clinical
evaluation. Inquiry regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. For questions
regarding variant classification updates, please call Quest Diagnostics at 1.866.GENE.INFO (1.866.436.3463) to speak to a genetic counselor or laboratory director,
or visit QuestDiagnostics.com/VariantIQ
During the COVID-19 health crisis, fast action and trusted information matter more than ever. Find out what’s happening.