Hereditary Cancer

Certain genetic conditions increase a person’s risk for cancer and heart disease.

The CDC has identified 3 genetic conditions as Tier One for genomic applications because early identification and intervention strategies can help improve public health outcomes.

  1. Hereditary Breast and Ovarian Cancer (HBOC)
    Caused by mutations in BRCA1 or BRCA2 genes, increasing the risk of breast, ovarian, tubal, peritoneal, and other cancers.
  2. Lynch Syndrome (LS)
    Linked with mutations in mismatch-repair genes, increasing the risk of colorectal, endometrial, ovarian, and other cancers.
  3. Familial Hypercholesterolemia (FH).
    Caused by mutations that lead to very high cholesterol levels from an early age, increasing the risk of heart disease or stroke.

Hereditary Cancer in Washington

An estimated 80,000 people in Washington are at higher risk for poor health outcomes due to HBOC or LS. Many individuals and families affected by these conditions remain unaware of their risk. Family health history can help identify these Tier One Conditions. Once Identified they may be offered genetic services.

Recognizing Risk in Family Health History

Specific patterns or clues can signal an inherited cancer risk. These include:

  1. Indicators for HBOC:
    1. Breast cancer diagnosed before age 50.
    2. Multiple family members with breast cancer.
    3. Ovarian cancer at any age.
    4. Male breast cancer.
    5. Triple-negative breast cancer.
    6. Prostate cancer before age 55.
    7. Pancreatic cancer in 1 or more family members.
  2. Indicators for LS:
    1. Colorectal or endometrial cancer before age 50.
    2. Multiple family members, multiple generations with colorectal or endometrial cancer.
    3. Additional cancer diagnoses that may be linked to LS, including stomach, small bowel, pancreas, biliary tract, urinary tract, ovarian, or brain cancer.

Why Tier One Conditions Matter

Tier One Conditions are an essential public health focus because they are common, preventable, and actionable.

Common

  • 5-10% of all breast cancer diagnoses are due to BRCA1 and BRCA2 mutations.
  • 3% of colorectal (CRC) and 3% of endometrial cancers are linked to Lynch Syndrome-associated mutations.
  • 1 in 500 people have a mutation linked to HBOC.
  • 1 in 279 people have a mutation related to LS.

Preventable

Actionable

  • Cascade Screening (also called family testing)
    Can help manage and monitor the condition, helping relatives understand their risk and take preventive steps.

Understanding Hereditary Cancer Risk Syndromes

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. Learn more at National Institutes of Health's Genetic and Rare Diseases Information Center or consider completing Washington Medical Commission’s Cancer Genetics Continuing Medical Education Series.

Referring Patients to a Genetic Clinic

Patients with a known personal or family history of certain cancers require cancer screening earlier and more frequently than the general population guidelines suggest. Providers should refer patients to a genetic clinic to receive cancer risk counseling and appropriate testing and treatment options.

If diagnosed with a hereditary cancer syndrome, patients may consider prophylactic surgery and have more frequent preventative screenings to reduce their risk. They should also consider Cascade Screening to identify relatives with the same condition.

Assessing Hereditary Cancer Risk

Personal Health History

Testing is 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. View a list of genetic providers.

Family Health History

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 Family history "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:
    • Female breast cancer diagnosed before age 50
    • Male breast cancer
    • Ovarian cancer
    • Pancreatic cancer
  • One or more first-degree blood relatives with:
    • Colorectal or endometrial cancer
    • 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 More information on Family Health History page.

Testing for Hereditary Cancer Syndromes

Hereditary cancer syndromes testing looks for inherited genetic mutations in genes that are known to increase a person’s lifetime risk of developing certain types of cancer. This process is also called germline genetic testing, which analyzes DNA from healthy (noncancerous) cells to identify genetic changes that may be passed down in families.

Germline genetic testing is often best facilitated by a genetic service provider, such as a genetic counselor, who is trained to determine the most appropriate genetic test, discuss important genetic testing considerations, interpret results, and guide next steps for individuals and their families.

Sometimes individuals undergo genetic testing on a portion of tumor tissue to help identify the most appropriate treatment options. This is known as somatic (tumor) genetic testing, which detects mutations that have developed in the cancer cells over time. Somatic genetic testing does not determine if a person has a hereditary cancer syndrome. Learn more about somatic and germline genetic testing here.

Even if a patient has undergone somatic testing, they should be referred for genetic services to assess their hereditary cancer risk and make an informed decisions about germline testing.

Cascade Screening: Identifying At-Risk Relatives

After getting hereditary cancer syndrome diagnosis, genetic clinics often encourage patients to start Cascade Screening. It means testing family members who might be at risk. Patients may need time to process their emotions about their diagnosis before talking to with their relatives. Primary care providers can help patients in discussing their results and highlight the importance of genetic testing with their families.

Resources For Patients and Families

Washington State Department of Health (DOH) and the Centers for Disease Control and Prevention (CDC) have resources to help patients talk with family members about their genetic risk:

Patients may also benefit from FORCE, a national organization helping improve the lives of people at risk of hereditary cancer.

Preparing Patients for Genetic Counseling Appointments

List of genetic cancer clinics in Washington.

Genetic counselors provide counseling, education, and support to patients so that they can make an informed decision about genetic testing. Patients can choose in-person or telehealth visits to receive genetic services.

Paying for Genetic Services

  • The total cost of genetic services and insurance coverage depends on the clinic, the insurance, and the services provided.
  • Patients should contact their insurance company with questions about coverage. Financial assistance 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.

Additional Information and Resources