Effect of Polygenic Risk Modification on breast cancer risk management and prevention: The PRiMo Trial

Not Applicable

Recruiting

• Conditions: Breast Cancer Risk Assessment; Ovarian Cancer Risk Assessment; Cancer - Breast; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders; Cancer - Ovarian and primary peritoneal

• Registration Number: ACTRN12621000009819
• Lead Sponsor: Peter MacCallum Cancer Centre

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2021-01-08
• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Female
• Target Recruitment: 2400

Inclusion Criteria

Prospective Enrolment:
(1) Undergoing a predictive test for a likely pathogenic (Class 4) or pathogenic (Class 5) familial mutation in a gene associated with increased risk of breast cancer - BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51C, RAD51D at a participating Familial Cancer Clinic.

Retrospective Enrolment:
(1) Have previously completed germline testing and been found to harbour a likely pathogenic (Class 4) or pathogenic (Class 5) variant in a breast/ovarian cancer associated ‘moderate risk’ gene: PALB2, CHEK2, ATM, RAD51C, RAD51D at a participating Familial Cancer Clinic.

Prospective and Retrospective enrolment
(2) Female, unaffected by invasive or in-situ breast cancer or epithelial ovarian cancer
(3) Aged 18 years or above and < 80 years
(4) Have access to the internet and a computer, tablet or smart phone and a basic level of familiarity with digital platforms.

Exclusion Criteria

(1) Unable to read and understand patient study information, including an English language patient information and consent form
(2) Have previously undertaken genomic testing that included polygenic risk information for breast or ovarian cancer
(3) Undergoing current treatment for a cancer diagnosis.
(4) No DNA sample at a participating diagnostic laboratory
(5) Known at time of enrolment to have or be at risk for a significant risk-factor for breast or ovarian cancer that is not captured in the PRiMo risk assessment. For example, a diagnosis of Li-Fraumeni syndrome or predictive testing for a variant with an atypical risk in a known gene (hypomorphs).

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Changes in risk management behaviour - a composite outcome including rates of screening episodes, risk management intentions, and uptake of risk reducing measures, collected using study-specific questionnaires. [ Pre-result, post-result, and annually post-result disclosure for 3 years.<br>];Prospective breast cancer incidence rates distributed across the risk categories (high, moderate, low) collected using study-specific questionnaires and matched to state-based cancer registries or medical records.[ Annually post-result disclosure for 3 years (intervention or standard care).];Prospective ovarian cancer incidence rates distributed across the risk categories (high, moderate, low) collected using study-specific questionnaires and matched to state-based cancer registries or medical records.[ Annually post-result disclosure for 3 years (intervention or standard care).]