Hereditary cancer syndromes are inherited conditions that significantly increase a person's risk of developing cancer. Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome are the most common types of inherited cancer syndromes. Find out more from the National Institutes of Health's Genetic and Rare Diseases Information Center.
Hereditary cancer syndromes are diagnosed by testing healthy cells, also called germline genetic testing. One cannot assess for a hereditary cancer syndrome by performing genetic testing on tumor cells, also called somatic testing. Providers should refer those with a family or personal medical history of certain cancers to a genetic clinic. These clinics provide cancer risk counseling and offer appropriate testing and treatment options.
Patients with a personal or family history of certain cancers require cancer screening earlier and more frequently than the guidelines suggest. If diagnosed with a hereditary cancer syndrome, patients may consider prophylactic surgery to reduce their risk. They should also consider Cascade Screening to identify relatives with the same condition.
Assessing Hereditary Cancer Risk
- Assess risk through family history
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Reviewing patients' family health history is one of the best ways to assess hereditary cancer syndrome risk. The criteria that determine when to refer a patient to a genetic clinic vary by syndrome.
The following are "red flags" for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
- Any blood relative with a pathogenic - or likely pathogenic - variant in a cancer susceptibility gene.
- One or more first- or second-degree blood relatives with
- a female breast cancer diagnosed before age 50,
- male breast cancer, or
- ovarian cancer.
- One or more first-degree blood relatives with a colorectal or endometrial cancer diagnosed before age 50.
- One or more first-degree blood relatives with
- a colorectal or endometrial cancer; and
- a synchronous or metachronous Lynch syndrome-related cancer.
- Two or more first- or second-degree blood relatives with Lynch syndrome-related cancers, including one diagnosed before age 50.
- Three or more first- or second-degree blood relatives with Lynch syndrome-related cancers.
Encourage patients to use the Surgeon General's My Family Health Portrait tool to record their family health history. See these family history collection tips and tools from the Jackson Laboratory.
- Differentiate between germline and somatic genetic testing
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When diagnosing or treating cancer, oncologists will sometimes send a portion of the tumor for somatic (or genetic) testing. Somatic testing can help identify appropriate treatments; it cannot determine whether a person has a hereditary cancer syndrome.
To understand inherited risk, patients must undergo germline genetic testing of healthy, non-cancerous cells. Be sure to refer at-risk patients for germline genetic testing, even if they've already undergone somatic testing.
Learn more about somatic and germline genetic testing.
- Assess risk through personal history
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Testing is still important after cancer treatment, both for the patient and their immediate family. This is especially important for patients who did not undergo germline genetic testing during treatment.
Some personal health history "red flags" for Hereditary Breast and Ovarian Cancer Syndrome; and Lynch Syndrome include the following.
- Breast cancer in males at any age
- Breast cancer in females at age 50 or younger
- Colorectal cancer at age 50 or younger
- Endometrial cancer at age 50 or younger
- Ovarian cancer at any age
Following cancer treatment, refer patients with the red flags above to a genetic clinic for germline genetic testing and genetic counseling.
- Encourage, assist, or initiate cascade screening
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After getting a diagnosis of a hereditary cancer syndrome, genetic clinics will often encourage patients to initiate Cascade Screening, the process of identifying and testing at-risk family members. Patients may need time to process emotions related to their diagnosis before discussing their diagnosis. When they are ready, primary care providers can help patients discuss genetic results with family members.
Washington State Department of Health (DOH) and the Centers for Disease Control and Prevention (CDC) offer resources to help patients talk with family members
- CDC's Talking to Your Family about Your Lynch Syndrome Diagnosis page
- CDC's Talking to Your Family About Your BRCA1 or BRCA2 Mutation page
- DOH Cascade Screening page
- DOH Lynch Syndrome page
Patients may consider joining FORCE, a group whose mission is to improve the lives of people facing hereditary cancer.
Preparing Patients for Genetic Counseling Appointments
Here is a list of cancer genetic clinics in Washington.
Genetic counselors provide pre-test counseling and education to patients. This is often before they decide what they want to do. Patient may or may not decide they want genetic testing before they see a genetic counselor.
Patients can choose in-person or telehealth visits to receive genetic services. While policies are frequently changing, these telehealth resources provided by Western States Regional Genetic Network may be helpful.
Paying for Genetic Services
The total cost of genetic services and insurance coverage depends on the clinic, the insurance, and the services provided. Patients with questions about coverage should contact their insurance company and clinic directly. Help may be available when cost is a barrier to testing; patients should ask their clinic directly in these cases.
Groups in Washington Working to Improve Hereditary Cancer Syndrome Outcomes
The following groups are working in Washington to improve outcomes for people with hereditary cancer syndromes.
- Cancer Predisposition Clinic – Seattle Children's The Cancer Predisposition Clinic at Seattle Children’s Hospital provides a medical home for children with hereditary cancer syndromes. The clinical team assesses children’s risk for cancer and carries out screening in order to improve early detection, intervention, and health outcomes.
- Cascade Screening Connector from Genetic Support Foundation
- Ethically responsible Clinical Decision Support for Lynch Syndrome Screening from UW Biomedical Informatics and Medical Education
- Find My Variant from UW Medicine
- Genetics and Epidemiology of Colorectal Cancer Consortium from Fred Hutchinson Cancer Research Center
- IGNITE-TX Study – This study aims to help people who have been diagnosed with Hereditary Breast and Ovarian Cancer (HBOC) or Lynch syndrome share their genetic test results with family members and empower family members to make decisions. This study is open for self-enrollment to all Washington residents.
- Pathways to Genetic Counseling from UW Health Promotion and Research Center
- PROMISE Registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness