Abstract 1562P
Background
Breast cancer (BC) is the leading cause of cancer deaths in women. Current BC screening includes women over 50, but up to 20% of all BCs occur in younger women. Moreover, current mammography-based BC screening addresses up to 58% of all BC cases. Therefore, there is a need for new preventative screening strategies that are also cost-effective. In an international Be RIGHT with breast cancer risk management (BRIGHT) study, we used a polygenic risk score (PRS)-based screening to identify high-risk women in a population that does not attend routine mammography to show that PRS-based BC screening is cost-effective and has clinical utility.
Methods
In Estonia, 799 participants aged 35-49 were enrolled in the study between 2022-2023. For PRS testing, the AnteBC test (Antegenes OÜ) was used. The PRS was calculated based on 2803 BC-related genetic variants. Participants also self-filled a questionnaire about previous family cancer history for monogenic pathogenic variant (MPV) testing. All participants received a report with relevant clinical recommendations based on PRS levels. Both participants and investigators had the opportunity to fill in online feedback questionnaires.
Results
Based on PRS testing, 15.9% needed to start BC screening earlier and 58.8% according to national guidelines. From attended mammographies (154), 127 had no and 16 had benign findings. Five biopsies were taken and one stage 0 in situ intraductal BC was diagnosed. 80 participants received MPV testing, 5.7% had disease-related genetic findings. 98.3% of participants agreed that information provided was clear and sufficient, and 71.4% said they were coping well with knowing their genetic risks. 89% of investigators agreed that genetic risk in BC prevention is important based on the experience gained in BRIGHT study. 61% of investigators would definitely use the AnteBC test in clinical practice, time and need for extra knowledge were brought out as limiting factors.
Conclusions
The results of the BRIGHT study in Estonia indicate that PRS-based BC screening is feasible, has clinical utility and healthcare systems are ready for implementation. In Estonia, the addition of PRS into BC screening is planned within next few years.
Clinical trial identification
The BRIGHT study has been registered in the ISRCTN registry under ID ISRCTN29884654. Registration date 13.01.2023.
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
European Commission via EIT Health (project #220720) and the Estonian Research Council PRG555 grant.
Disclosure
P. Padrik: Financial Interests, Institutional, Leadership Role: OÜ Antegenes. A. Paas, K. Kruuv-Käo, S. Sõber, A. Padrik, J. Pindmaa, Financial Interests, Institutional, Full or part-time Employment: OÜ Antegenes. All other authors have declared no conflicts of interest.
Resources from the same session
1491P - Palliative care of E-warm model for driver-gene-negative non-small cell lung cancer patients: A single-center randomized controlled trial
Presenter: Junhui Zhang
Session: Poster session 10
Resources:
Abstract
1492P - The role of LACE index in predicting 30-day unplanned readmission in patients receiving immunotherapy
Presenter: Duygu Ercan Uzundal
Session: Poster session 10
1493P - The Italian version of the FAMCARE-P13 questionnaire: A validation study
Presenter: Giacomo Massa
Session: Poster session 10
1494P - Prognostic features in NSCLC patients with ECOG-PS 2-4: A prospective cohort study
Presenter: Gilberto De Castro Jr.
Session: Poster session 10
1495P - Impact of social isolation on the clinical outcomes in advanced NSCLC patients
Presenter: Yoh Yamaguchi
Session: Poster session 10
1496P - Predictors of early mortality after hemodialysis in patients with cancer and acute kidney injury
Presenter: Suleyman Cagin Gurbuz
Session: Poster session 10
1497P - Resuscitation decisions in advanced cancer: A mixed methods study exploring survival outcomes and views of healthcare professionals
Presenter: Rachel Prichard
Session: Poster session 10
1498P - Acute myeloid leukemia: Trends in palliative care utilization in hospitalized patients over 65 years old - A national inpatient sample study (2016-2020)
Presenter: Marco Bermudez
Session: Poster session 10
Resources:
Abstract
1499P - Knowledge, attitudes, and current practices toward lung cancer palliative care management in China: A national survey
Presenter: Mengting Chen
Session: Poster session 10
Resources:
Abstract
1500P - Caring for carers: The impact of death & dying on doctors-in-training in an Irish tertiary referral hospital
Presenter: Conor Moloney
Session: Poster session 10