Characterization of HER2-low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study

F Schettini; E Blondeaux; C Molinelli; R Bas; HJ Kim; A Di Meglio; R Bernstein Molho; SC Linn; K Pogoda; E Carrasco; K Punie; E Agostinetto; N Lopetegui-Lia; KA Phillips; A Toss; C Rousset-Jablonski; M Acheritogaray; A Ferrari; S Paluch-Shimon; R Fruscio; W Cui; SM Wong; C Vernieri; MV Dieci; A Matikas; M Rozenblit; C Villarreal-Garza; L De Marchis; F Puglisi; L Vasconcelos de Matos; M Mariño; L Teixeira; R Graffeo; A Rognone; A Chirco; N Antone; Y Abdou; M Marhold; I Božović-Spasojević; A Cortés Salgado; L Carmisciano; M Bruzzone; G Curigliano; A Prat; M Lambertini

Journal article

Characterization of HER2-low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study

F Schettini, E Blondeaux, C Molinelli, R Bas, HJ Kim, A Di Meglio, R Bernstein Molho, SC Linn, K Pogoda, E Carrasco, K Punie, E Agostinetto, N Lopetegui-Lia, KA Phillips, A Toss, C Rousset-Jablonski, M Acheritogaray, A Ferrari, S Paluch-Shimon, R Fruscio Show all

Cancer | WILEY | Published : 2024

DOI: 10.1002/cncr.35323

Abstract

Background: Breast cancer (BC) in women aged ≤40 years carrying germline pathogenetic variants (PVs) in BRCA1/2 genes is infrequent but often associated with aggressive features. Human epidermal growth factor receptor 2 (HER2)-low-expressing BC has recently emerged as a novel therapeutic target but has not been characterized in this rare patient subset. Methods: Women aged ≤40 years with newly diagnosed early-stage HER2-negative BC (HER2-0 and HER2-low) and germline BRCA1/2 PVs from 78 health care centers worldwide were retrospectively included. Chi-square test and Student t-test were used to describe variable distribution between HER2-0 and HER2-low. Associations with HER2-low status were a..

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University of Melbourne Researchers

Kelly Phillips Author

Wanyuan Cui Author

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Grants

Awarded by Instituto de Salud Carlos III

Funding Acknowledgements

Francesco Schettini is supported by a Rio Hortega clinical scientist contract from the Instituto de Salud Carlos III (ISCIII). Chiara Molinelli was supported by Fondazione Umberto Veronesi. Kelly-Anne Phillips is a National Health and Medical Research Council (Australia) Leadership Fellow. Data collection for most Australian participants was through the kConFab Follow-Up Study with support from Cancer Australia and the National Breast Cancer Foundation (PdCCRS #1100868), Cancer Australia (809195), the Australian National Breast Cancer Foundation (IF 17), the Australian National Health and Medical Research Council (454508, 288704, 145684), the US National Institutes of Health (1RO1CA159868), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. Opinions and hypotheses generated are solely of the article's authors. The study was partly supported by the Italian Association for Cancer Research ("Associazione Italiana per la Ricerca sul Cancro", AIRC; MFAG 2020 ID 24698). Any views, opinions, findings, conclusions, or recommendations expressed in this material are those solely of the authors and do not necessarily reflect those of funding entities.