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
1481P - A case-control study of drug-eluting microspheres and blank microspheres in bronchial artery embolization for hemoptysis in non-small cell lung cancer
Presenter: Tongguo Si
Session: Poster session 10
1482P - Percutaneous transhepatic biliary drainage (PTBD) for palliation of jaundice in patients of unresectable/disseminated carcinoma gall bladder with hilar block: Is it a worthwhile enterprise?
Presenter: Saurabh Galodha
Session: Poster session 10
1484P - Inflammatory patterns of ascites in patients with solid tumors
Presenter: Julia Berger
Session: Poster session 10
1485P - Mitigating symptom clusters of patients with metastatic cancer through a remote physical exercise program (EXIO)
Presenter: Paulo Bergerot
Session: Poster session 10
1486P - A personalized rehabilitation pilot program for improving QOL of unresectable metastatic lung cancer patients
Presenter: Shani Shilo
Session: Poster session 10
1487P - Telemonitoring system effectiveness for alleviating cancer pain in patients with advanced cancer
Presenter: Shiori Yoshida
Session: Poster session 10
1488P - Use of mobile app “SUPPORT+” to enhance community palliative care in advanced cancer patients: A feasibility study
Presenter: Wendy Chan
Session: Poster session 10
1489P - Factors influencing adherence to electronic patient-reported outcomes in palliative cancer care
Presenter: Sarah Gomes
Session: Poster session 10
1490P - Health-related quality of life of cancer patients on chemotherapy and its relationship with caregiver strain: A cross-sectional analytical study
Presenter: Herald Mapa
Session: Poster session 10
Resources:
Abstract