Utah Cancer Control Program A Unified Cancer Prevention Approach

Genomics - Provider Information

Identifying patients who are at higher risk for specific cancers can result in increased surveillance or prophylactic risk-reduction that can save lives. The information below will provide background on two of the most common hereditary cancer syndromes, Hereditary Breast and Ovarian Cancer (HBOC), caused by the BRCA1/2 genes, and Lynch Syndrome.

What patients should be referred to genetics for BRCA1/2 or Lynch?

Hereditary Breast and Ovarian Cancer

The National Comprehensive Cancer Network has recommendations for patients who should be considered for further genetic evaluation for Hereditary Breast and Ovarian Cancer caused by the BRCA1/2 genes.

Any patient with a personal history of:

  • Ovarian cancer at any age
  • Male breast cancer
  • Breast cancer before age 45
  • Triple-negative breast cancer before age 60
  • Bilateral breast cancer
  • Breast cancer at any age, with at least one relative with early-onset breast cancer (before age 50), invasive ovarian cancer, or at least 2 close blood relatives with breast and/or pancreatic cancer
  • Ashkenazi Jewish ancestry and a family history of breast or ovarian cancer

Any patient with a family history of:

  • A known BRCA or other cancer susceptibility mutation in the family
  • Bilateral breast cancer in a first or second-degree relative
  • Ovarian cancer in a first or second-degree relative
  • Male breast cancer in a first or second-degree relative
  • A first or second-degree relative with breast cancer diagnosed before age 45
  • Three of more HBOC-related cancer (breast, ovarian, pancreatic, prostate, sarcoma, etc.), preferably with at least one early-onset HBOC-related cancer diagnosis

Lynch Syndrome

Amsterdam and Bethesda criteria have been established by notable colorectal cancer consortiums to determine patients who should be seen for further genetic evaluation. Their criteria determine patients who may be at higher risk for Lynch Syndrome, and are as follows:

Any patient with a history of:

  • A known high-risk cancer syndrome associated with colorectal cancer in the family
  • Colorectal or endometrial cancer with an abnormal immunohistochemistry (IHC) or microsatellite instability (MSI)
  • Endometrial cancer diagnosed younger than age 50

A family meeting Amsterdam criteria, which follows the 3-2-1-0 rule:

  • 3 or more relatives with colorectal or other Lynch-associated tumors
  • 2 successive generations are affected by Lynch-associated cancers
  • 1 or more of the cancer diagnoses occurred prior to age 50
  • 0: Other polyposis or hereditary colorectal cancer diagnoses have been excluded.

Please note: Patients who meet the above criteria should seek further genetic evaluation, however a family member with a cancer diagnosis is typically the best candidate for testing.

Tools for assessing hereditary cancer risk

There are multiple risk assessment tools that you, other providers, or patients can use to determine their individual risk status. Some of these options are listed below. Many models prioritize different aspects of a patient’s medical and family history as well as their background, and so particular patients may warrant different tools than others.

Hereditary Breast and Ovarian Cancer (BRCA1/2) Risk Assessment Tools

Breast Cancer Genetics Referral Screening Tool (B-RST): This tool can be utilized by providers or patients, and evaluates provided family history to determine if the patient should be referred for cancer genetic services.

KnowBRCA*: This is an electronic assessment provided by the Centers for Disease Control (CDC) and Bright Pink that utilizes BRCAPRO assessment models to determine a patient’s risk. If the risk is greater than 1% for having a BRCA mutation, patients are considered to be at increased risk. An account is required to complete this assessment.

Breast Cancer Risk Assessment Tool*: This electronic Gail Model was developed by the National Cancer Institute to estimate the risk of developing breast cancer. If a patient is at increased risk, they may qualify for chemoprevention or genetic services.

BOADICEA*: Calculating both BRCA mutation risk and age-specific cancer risks, BOADICEA is one of the first risk assessment models meant for familial breast and ovarian cancer. An account and verification is required, so BOADICEA is likely not the best option for someone short on time.

Tyrer-Cuzick*: This model uses risk factors such as age and BMI, as well as family history and genetic factors to determine a personalized risk estimate. For women with multiple biopsies that do not show atypia, this model typically overestimates cancer risk.

Additional tools do not have electronic links but can be found on this link. Of note, the FHS-7, which consists of 7 questions, is fairly easy to use and genetic counseling referral is warranted with one or more positive response. Information on the Pedigree Assessment Tool, the Manchester Scoring System, and the Ontario Family History Assessment Tool is also included at this link: BRCA Screening tools.

*These tools were analyzed by the National Society of Genetic Counselors (NSGC) in conjunction with an updated practice guideline in 2013. The comparison chart can be found here, and the full article can be located here.

Lynch Syndrome: Risk assessment tools to identify people at risk for Lynch Syndrome are less common than Hereditary Breast and Ovarian Cancer (HBOC), associated with the BRCA1/2 genes. There are a few options:

My Family Health Portrait: Though typically meant for patients and slightly time-consuming to complete during an appointment, this tool has a Colorectal cancer screening calculator. Patients may be encouraged to fill this out ahead of time so that the record can be easily loaded and calculated during the appointment.

BRCA1/2 and Lynch Syndrome Risk Assessment Tools

Cancer Gene: This software includes BRCAPRO, Claus, and Gail modeling, as well as MMRPRO, which measures Lynch Syndrome risk. This will require signing up for a free account.

Hughes RiskApps: This website collects only cancer history and then the patients’ medical history (first menstrual period, first live birth, etc.) and utilized multiple risk softwards to produce 5 year and lifetime values, as well as the likelihood of having a BRCA1/2 or Lynch Syndrome mutation. This tool may overestimate risk when compared to the data obtained from the individual risk models which comprise its calculations, by leaving off factors such as competing mortality, etc.

A free online version of the risk tool can be found here.

The software can be inquired about here.

Genetic Services in Utah

There are many certified genetics professionals in Utah that can provide physician assistance for any questions you may have, but are also incredible resources for Utahns at high-risk for breast, ovarian, or colorectal cancer. Board-certified clinical genetic counselors in the state are listed below. Many of these providers offered their direct line, but ask that you provide your patients with the information listed on the patient portion of the website for scheduling purposes and questions.

Huntsman Cancer Institute

Salt Lake City, UT

    (801) 587-9555

Intermountain Health Care

Salt Lake City, UT

    (801) 507-3833

Intermountain Health Care

Provo, UT

McKay-Dee Hospital (Ogden)

Logan Regional Hospital (Logan)

    (801) 387-4008

Department of Veteran Affairs

Salt Lake City, UT

    (801) 582-1565

Hereditary Cancer Resources and Professional Guidelines

Below are links to the most updated recommendations from many of the nation’s leading medical societies. While covered briefly throughout the website, each of these resources comprehensively covers the evidence behind their recommendations for risk assessment, genetic counseling and testing, and medical management after mutation identification.


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