The TESTBREAST journey - Revisiting the importance of early detection by frequent screening of women at high risk of breast cancer

Sep 23, 2026

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Women with an inherited pathogenic variant (PV) in a breast cancer susceptibility gene, or a familial predisposition (FP), face elevated risk of breast cancer. Interval cancers and radiation exposure create a need to improve screening methods. The TESTBREAST study aims to develop a blood test for early diagnosis. From 2010 to 2022, 1108 women were enrolled and 750 were suitable for serum analysis, with a median follow-up of 7 years.

LanguageEnglish

CategoryHealthcare

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DOI: 10.1002/ijc.35444 RES EARCH A RTICLE Cancer Therapy a nd Prevention The TESTBREAST journey: Revisiting the importance of early detection by frequent screening of women at high risk of breast cancer Layla Andour 1 | Sophie C. Hagenaars 1 | Kiki Vangangelt 1 | Janneke Aalberts 1 | Valerie Rebattu 1 | Dorien M. A. Berends van der Meer 1 | Elma Meershoek-Klein Kranenbarg 1 | Katja N. Gaarenstroom 2 | Christi J. van Asperen 3 | Rob A. E. M. Tollenaar 1 | Wilma E. Mesker 1 | on behalf of the TESTBREAST study team 1Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands 2Department of Obstetrics and Gynecology, Leiden University Medical Center, Leiden, The Netherlands 3Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands Correspondence Wilma E. Mesker, Department of Surgery, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. [Email:](Email: w.e.mesker@lumc.nl)[ w.e.mesker@lumc.nl](Email: w.e.mesker@lumc.nl) Funding information Team Westland; Bontius Stichting; Genootschap Landgoed Keukenhof; Stichting Zabawas; Fonds NutsOhra; Stichting A Sister's Hope; Tandengoud; Bollenstreekfonds; Pink Ribbon Abstract Women with an inherited pathogenic variant (PV) in a breast cancer (BC) susceptibility gene, or familial predisposition (FP) have an increased risk to develop BC. There is a need for improvement of screening methods due to interval cancers and radiation exposure. The aim of the TESTBREAST study is to develop a blood test suitable for early diagnosis. Here, the clinical composition of participants is provided. From 2010 to 2022, 1108 women were included in the TESTBREAST study, with currently 750 participants suitable for serum analysis. The median follow-up was 7 years [1–14] . Of the 1108 participants, 70%(n = 728) had a PV. BC was diagnosed in 16 . 5%(n = 124), mainly stage I-II (68 . 5%), and mostly BRCA1 (n = 47, 47%) and BRCA2 (n = 29, 29%) carriers. Invasive cancer was diagnosed in 100 cases: 76%(n = 76) had a PV with a median age of 49 [26–68] at diagnosis, whereas 24%(n = 24) had a FP, with a median age of 51 years [25–65] . The general population (the Netherlands) is aged 61 years on average at diagnosis. Triple negative breast cancer (TNBC) occurred in 51%(n = 39) of the TESTBREAST women with a PV, whereas this was 11% in the general population. Within the TESTBREAST cohort, BRCA carriers were younger at diagnosis and often had the aggressive TNBC Abbreviations: BC, Breast Cancer; BCSP, Breast Cancer Screening Program; DCIS, Ductal Carcinoma in Situ; ER, Estrogen Receptor; FMS, Federation of Medical Specialists, the Netherlands; FP, Familial Predisposition; GP, General Practitioner; HER2, Human Epidermal Growth Factor Receptor 2; IKNL, Dutch National Cancer registry; LCIS, Lobular Carcinoma in Situ; LTR, Lifetime Risk; MRI, Magnetic Resonance Imaging; NCCN, National Comprehensive Cancer Network; NICE, National Institute of Health and Care Excellence; NST, No Special Type; PR, Progesterone Receptor; PV, Pathogenic Variant; QOL, Quality of Life; RRGS, Risk Reducing Gynecologic Surgery; RRM, Risk Reducing Mastectomy; RRO, Risk-Reducing Oophorectomy; RRS, Risk-Reducing Salpingectomy; RRSO, Risk-Reducing Salpingo-Oophorectomy; TESTBREAST, Trial Early Serum Test Breast; TNBC, Triple Negative Breast Cancer; UK, United Kingdom; US, United States; UV, Unclassified Variant. J. Aalberts, T. M. A. Berends-van der Meer, S. C. Hagenaars, L. Andour, W. E. Mesker, R. A. E. M Tollenaar, W. M. Meershoek-Klein Kranenbarg, K. N. Gaarenstroom, C. M. R. Haekens, K. B. M. I. Keymeulen, J. Remmelzwaal, M. Piek-den Hartog, E. J. T. Rutgers, C. Drukker, C. Lemstra, A. Prozee, J. de Vries, A. Stam, C. Bandel, I. Meijer, A. E. Dassen, S. Makineli, E. E. van Oers-Hazelzet, A. J. Witkamp, K. E. Schenk, W. van der Eijk, M. B. E. Menke-Pluijmers, J. de Droog-Laane, B. A. Kortmann. Rob A. E. M. Tollenaar and Wilma E. Me

FAQs

What population is the TESTBREAST study focusing on?

Women at high risk of breast cancer due to an inherited pathogenic variant in susceptibility genes or familial predisposition.

What was the main aim of the TESTBREAST study?

To develop a blood test suitable for early diagnosis of breast cancer.

Why does the document emphasize more frequent screening for high-risk women?

Because conventional approaches can miss interval cancers and screening exposure, while high-risk women tend to develop breast cancer at younger ages and with more aggressive subtypes.

Sep 23, 2026

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