Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

doi:10.1136/jmg-2024-109943

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Article

Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.

Journal of medical genetics - 19 Jul 2024

Yang Xin, Mooij Thea M, Leslie Goska, Ficorella Lorenzo, Andrieu Nadine, Kast Karin, Singer Christian F, Jakubowska Anna, van Gils Carla H, Tan Yen Y, Engel Christoph, Adank Muriel A, van Asperen Christi J, Ausems Margreet G E M, Berthet Pascaline, Collee Margriet J, Cook Jackie A, Eason Jacqueline, Spaendonck-Zwarts Karin Y van, Evans D Gareth, Gómez García Encarna B, Hanson Helen, Izatt Louise, Kemp Zoe, Lalloo Fiona, Lasset Christine, Lesueur Fabienne, Musgrave Hannah, Nambot Sophie, Noguès Catherine, Oosterwijk Jan C, Stoppa-Lyonnet Dominique, Tischkowitz Marc, Tripathi Vishakha, Wevers Marijke R, Zhao Emily, van Leeuwen Flora E, Schmidt Marjanka K, Easton Douglas F, Rookus Matti A, Antoniou Antonis C

Abstract excerpt

BACKGROUND: No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting 5-year breast cancer risks in a prospective cohort of BRCA1/2 PV carriers ascertained through clinical genetic centres. METHODS: We evaluated the model calibration and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38834293
DOI: 10.1136/jmg-2024-109943
PMCID: PMC11287562

Genes

BRCA1
BRCA2

Provenance

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