Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2022 Jun 10

PMID 35681696

Authors

Stephanie Archer

Nichola Fennell

Ellen Colvin

Rozelle Laquindanum

Meredith Mills

Romy Dennis

Francisca Stutzin Donoso

Rochelle Gold

Alice Fan

Kate Downes

James Ford

Antonis C Antoniou

Allison W Kurian

D Gareth Evans

Marc Tischkowitz

Affiliations

Soon will be listed here.

Abstract

Women who test positive for an inherited pathogenic/likely pathogenic gene variant in , and are at an increased risk of developing certain types of cancer-specifically breast (all) and epithelial ovarian cancer (only ). Women receive broad cancer risk figures that are not personalised (e.g., 44-63% lifetime risk of breast cancer for those with ). Broad, non-personalised risk estimates may be problematic for women when they are considering how to manage their risk. Multifactorial-risk-prediction tools have the potential to deliver personalised risk estimates. These may be useful in the patient's decision-making process and impact uptake of risk-management options. This randomised control trial (registration number to follow), based in genetic centres in the UK and US, will randomise participants on a 1:1 basis to either receive conventional cancer risk estimates, as per routine clinical practice, or to receive a personalised risk estimate. This personalised risk estimate will be calculated using the CanRisk risk prediction tool, which combines the patient's genetic result, family history and polygenic risk score (PRS), along with hormonal and lifestyle factors. Women's decision-making around risk management will be monitored using questionnaires, completed at baseline (pre-appointment) and follow-up (one, three and twelve months after receiving their risk assessment). The primary outcome for this study is the type and timing of risk management options (surveillance, chemoprevention, surgery) taken up over the course of the study (i.e., 12 months). The type of risk-management options planned to be taken up in the future (i.e., beyond the end of the study) and the potential impact of personalised risk estimates on women's psychosocial health will be collected as secondary-outcome measures. This study will also assess the acceptability, feasibility and cost-effectiveness of using personalised risk estimates in clinical care.

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