Portuguese preliminary study results were presented at the ULS Santa Maria Hospital in Lisbon

On 25 November, the preliminary results of the Portuguese study were presented at the BRIGHT seminar at ULS Santa Maria Hospital in Lisbon as part of the Santa Maria Innovation Days.

The Portuguese clinical study was initiated in June 2023, with the majority of participants recruited between January and July 2024. A total of 793 PRS reports were generated for women aged 35–49.

The recruitment process in Portugal took place in two stages. The first stage, launched in June 2023, targeted hospital staff. The second stage began in December 2023 and was promoted through social media, the hospital’s website, local media, and digital screens throughout the hospital (MUPIs). Over 1,000 volunteers expressed interest in participating, and 800 women ultimately took part in the testing.

In Portugal, enrolment took place at the hospital in an appointment-style format. Volunteers either self-administered the PRS test or received assistance from a nurse, followed by a thorough clinical examination with an oncologist. The participants were tested using the AnteBC test, with buccal swab samples sent to Antegenes for processing. Once analysed, a PRS report, medical assessment, and clinical recommendations were generated, and results were provided to participants. The women were categorised into three risk groups: low (RR < 1.5), slightly elevated (1.5 ≤ RR < 2.7), and elevated (RR > 2.7).

The results showed that the average participant age was 41, with an average cohort percentile of 50.68%. The majority of women (585, or 73.77%) had a 10-year risk at or below the average risk for a 50-year-old woman, while 208 women (26.23%) had a 10-year risk higher than the average for 50-year-old women in Portugal. Based on the recommendations, 390 women were advised to begin mammographic screening before the age of 50, and 193 women (24%) were recommended to start screening within the current year due to their elevated risk score.

Additionally, all participants were offered a follow-up mammogram and breast ultrasound after their first appointment. Almost half of the volunteers underwent both ultrasound (390) and mammography (48%). The most common reasons for not undergoing imaging exams were pregnancy or recent motherhood.

Finally, the first participant feedback questionnaire revealed that most volunteers (32.4%) first heard about the project through a family member or friend, while 28% learned about it from their doctor. The study information was considered sufficient, clear, and understandable by 89% of participants. Moreover, 98.6% of women were pleased to have participated and would make the same choice again.

BRIGHT Consortium Members at the 1st International Conference on Young Women’s Breast Cancer and Health in Lisbon

At the 1st International Conference on Young Women’s Breast Cancer and Health in Lisbon in October 2024, Prof Neeme Tõnisson presented the results of the BRIGHT Estonian arm. Additionally, two posters, “Genetic Risk-Based Breast Cancer Screening Service Model for Younger Women in Estonia” and “Epidemiological and Radiologic Factors in the Portuguese BRIGHT Study Cohort – Preliminary Results,” were presented by the BRIGHT Consortium partners.

October is recognised as Breast Cancer Awareness Month, dedicated to raising awareness about breast cancer prevention. The month concluded with a significant event—the 1st International Conference on Young Women’s Breast Cancer and Health in Lisbon. Representing Estonia, Prof. Neeme Tõnisson presented the genetic risk-based personalised breast cancer prevention approach developed, researched, and clinically implemented through the EIT Health BRIGHT project in Estonia. His presentation was titled: “BRIGHT International Consortium Project: Polygenic Risk Score in Early Breast Cancer Detection”.

Breast cancer is, unfortunately, becoming the most common cancer globally, with incidence rates increasing, including among younger women. However, the positive news is that the likelihood of developing breast cancer can be reduced by addressing risk factors, and, with timely detection, it can be treated successfully.

It was inspiring to witness discussions at the conference, particularly from women’s and patient organisations, highlighting that for effective breast cancer prevention and early detection, women need to understand their personal risk levels. Healthcare professionals must also provide personalised prevention guidelines tailored to these risks.