Breast Cancer 
Genetic Test 

1 

Introduction

Which Women Need Screening

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Get a clearer view of breast cancer risk

Combining monogenic breast cancer gene testing with a polygenic risk score (PRS) provides a more comprehensive and precise genetic risk assessment (1-4).

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Fact:  Most gene test reports (monogenic) are negative for rare high-risk genes for women with a family history.

More Comprehensive Risk Assessment:  Layering the Galatea StrataRisk™ PRS analysis on top of traditional genetic testing, physicians can better stratify risk and make more personalized decisions about screening, prevention, and follow-up care, across many more women of all ancestries, compared to using gene panel testing only.

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Our approach may be especially valuable for

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• Women with a family history of breast cancer but no identified high-risk gene mutations, including those with an uncertain findings (Variant of Uncertain Significance) 

  • PRS offering additional risk insights for these patients (1-4)

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• For those with moderate-risk gene mutations (e.g., CHEK2, ATM), PRS can adjust their overall risk estimate, sometimes raising it to a high-risk level, guiding more precise management decisions (5-12).

• Women with or without family history who want an accurate risk assessment (3). Incorporate genetic risk information improves the Tyrer-Cuzick scoring model's predictive accuracy of developing breast cancer (3, 8, 10).    ​

2

Clinical Utilities

a. Pathogenic Variant Finding in a High-Risk Gene (e.g., BRCA1/2, PALB2)

• Consider:

  • Enhanced surveillance (MRI + Mammogram)

  • Refer for risk-reducing intervention (such as surgery)

  • Genetic counseling follow-up

  • Cascade testing

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• PRS not required to make decision

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b. Pathogenic Variant Finding in a Moderate-Risk Gene (e.g., CHEK2, ATM, etc)

Add Galatea StrataRisk™ PRS ​

• ​If result is "HIGH Polygenic Risk"​​

  • Patients who have a pathogenic variant in a moderate-risk gene and who also have high PRS risk, may be considered to have overall high genetic risk for Breast Cancer.  Such patients may benefit from earlier and more intensive screening with mammogram or breast MRI.

• Consider:

  • Annual MRI + Mammogram

  • Cascade testing because risk (penetrance) associated with the monogenic finding is considered "high" instead of "moderate"

  • Genetic counseling follow-up

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• If result is "NOT HIGH Polygenic Risk"

  • Consider:

    • Follow current screening guidelines for moderate-penetrance breast cancer genes 

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c. No Pathogenic Variant, or Only a VUS was Detected

Add Galatea StrataRisk™ PRS

• If result is "HIGH Polygenic Risk"

  • Consider:

    • Earlier and more frequent screening with MRI and/or Mammogram, or

    • Shared decision-making on earlier screening.

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• If result is "NOT HIGH Polygenic Risk"

  • Consider:

    • Routine screening appropriate for individuals without elevated genetic risk

    • Shared decision-making based on clinical risks and family history. ​​​​

3

Indications for Genetic Testing

a. Individuals with a Family History of Breast Cancer

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• Especially if there’s no known BRCA1/2 or other monogenic mutation found

• PRS can help stratify risk when single-gene testing is negative 

b. Carriers of Moderate-Risk Gene Mutations

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• Such as CHEK2, ATM, or other genes with moderate penetrance

• PRS helps refine risk and guide decisions about surveillance or preventive care

c. Women with a VUS finding in monogenic test results

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• Patients with a variant of uncertain significance (VUS)

• For patients with a genetic finding where the clinical impact is unclear, adding PRS can help reassess overall risk.

• While the VUS itself isn't actionable, a high polygenic risk score may still support closer monitoring or earlier screening discussions.

d. Women with No Family History but with Elevated Risk Based on Clinical Factors

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• Including age, breast density, or Tyrer-Cuzick score. 

• PRS adds genetic precision to clinical tools

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e. Women Seeking Personalized Prevention Plans

• Including shared decision making about early screening, MRI use, or lifestyle changes

Note: Our Testing is Specific to Women of All Ethnic Backgrounds

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• Galatea StrataRisk™ PRS ​is ancestry adjusted based on the patient's ethnic background, and has validated across diverse ancestries

• The integrated approach increases accuracy at the patient level, and helps reduce disparities in risk prediction​​

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f. Women with a Family or Personal History*

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• Breast Cancer diagnosed at age 50 or younger, or presenting as metastatic, multiple primaries, triple-negative, or lobular subtype. 

• At least one first- or second-degree relative with Breast Cancer diagnosed at age 50 or younger or Triple-Negative Breast Cancer

• A personal history of a Primary Solid Tumor (excluding basal or squamous cell skin cancer) and a pathogenic variant was detected in tumor tissue that has clinical implications if detected in the germline (e.g., BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, RAD51C, RAD51D, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TSC2, VHL APC, PTEN, RB1, and TP53)

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* Personal or family cancer history are likely to be insurance-covered indications for testing.

​Contact us for more information on indications that may qualify for insurance coverage.

4

Test Description

• Methods

  • Multi-Gene Hereditary Cancer Panel

    • Whole genome sequencing  

  • Supplemental Polygenic Risk Score Analysis

• Sample Requirements

  • Buccal Swab, Saliva or 3mL whole blood in EDTA tube

  • Sampling can be completed at patient's home. 

• Laboratory

  • Test is performed at Galatea's U.S. CLIA-certified and CAP-accredited clinical laboratory​

5

Clinical Report

1. ​Multi-Gene Hereditary Cancer Test Report​

2. Supplemental Polygenic Risk Score Report based on Emerging Clinical Evidence

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Report Descriptions

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​a. Monogenic Findings (High- or Moderate-Risk Gene Mutations)

• What’s reported:

  • Gene(s) tested: e.g., BRCA1, BRCA2, CHEK2, PALB2, ATM, TP53, etc.

• Result status:

  • Positive (Pathogenic/Likely Pathogenic Variant): Indicates a hereditary breast cancer syndrome.

  • Negative: No known disease-causing variant found.

  • VUS (Variant of Uncertain Significance): A change was found, but its clinical meaning is unclear.

• Clinical impact:

  • Positive findings often qualify patients for early screening, preventive intervention, or family cascade testing.​​​

b. Polygenic Risk Score 

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• What’s reported:

  • “High Polygenic risk” or Not High Polygenic Risk"

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• Interpretation:

  • Especially useful when patient is negative for high-risk single genes.

  • May further increase disease risk in moderate-risk gene carriers (like CHEK2 or ATM in breast cancer).

  • ​Result may be integrated with clinical information such as age, family history, and breast density (if provided) using a model like Tyrer–Cuzick to produce more accurate risk assessment.

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c. Friendly and Reassuring

• Patients who consent will receive a personalized ancestry report.  

6

Physician and Insurance Support 

Clinical interpretation of results and clinical reports are provided by Galatea’s certified laboratory.

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Physician support is offered in partnership with Nova, which includes:

• Assistance correlating symptoms and family history with variant findings

• Help understanding test results and reports

• Support in communicating findings with families

• Next steps for follow-up or genetic counseling

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Genetic Counseling Support is provided by Galatea-affiliated, licensed genetic counselors

Insurance Support is available to assist physicians and families with pre-authorization and billing.