Author

Craig Luccarini

University of CambridgeORCID 0000-0002-7145-8129Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Paul D.P. PharoahiD· 4 shared Alison M. DunningiD· 3 shared Andreas HadjisavvasiD· 3 shared Anna González‐NeiraiD· 3 shared Jenny C. Chang-ClaudeiD· 3 shared Jingmei LiiD· 3 shared Joe DennisiD· 3 shared Jose Esteban CastelaoiD· 3 shared

Activity by Year

2022-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Paul D.P. PharoahORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, Wenan Chen, Chunling Hu, Marc Naven, Kristia Yiangou, Thomas U. Ahearn, Christine B. Ambrosone, Irene Louise Andrulis, Antonis C. Antoniou, Paul Livermore Auer, , Gary Zirpoli

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Nature Communications · May 24, 2025Peer-reviewedGenetic & Genomic Medicine

Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk prediction

Shuai Li, Robert J. MacInnis, Andrew Lee, Tú Nguyen‐Dumont, Leila Dorling, Sara Carvalho, Gillian S. Dite, Mitul Shah, Craig Luccarini, Qin Wang, Roger Laughlin Milne, Mark A. Jenkins, Graham G. Giles, Alison M. Dunning, Paul D.P. Pharoah, , Antonis C. Antoniou

This study analyzes 17,425 breast cancer families to assess genetic factors contributing to familial risk, finding a recessive risk component and polygenic factors explain residual familial variance.

The American Journal of Human Genetics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine

Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Naomi Wilcox, Martine Dumont, Anna González‐Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stéphane Dubois, Rocío Núñez‐Torres, Guillermo Pita, M. Rosario Alonso, Núria Álvarez, Caroline Baynes, Heiko Becher, , Jacques Simard

The paper uses whole-exome sequencing data to identify novel breast cancer susceptibility genes and assess the contribution of coding variants to breast cancer risk.

medRxiv · Jun 17, 2022 · PreprintGenetic & Genomic Medicine

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, Stephan Heijl, Muriel A. Adank, Thomas U. Ahearn, Irene L. Andrulis, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, , Javier J. Benitez

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

Genome Medicine · May 18, 2022Peer-reviewedGenetic & Genomic Medicine