The paper shows that Wnt signaling in mesenchymal TNBC cells increases inflammation and EMT-related gene expression, and identifies a 55-gene signature associated with these effects.

Scientific Reports · Apr 2, 2026Peer-reviewedBioinformatics

A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription

Anna Minello, Jesús Gómez-Escudero, Sree Rama Chaitanya Sridhara, Charlotte A. Martin, Elodie Girard, Juan C. Cañas, Yasin Memari, Maria Rose Bustos, Antonio Galarreta, Virginie Boucherit, Evgeny Imyanitov, Sigríður Klara Böðvarsdóttir, Sylvain Baulande, Anne Vincent‐Salomon, Nicolas Servant, , Aura Carreira

The paper investigates a BRCA2 truncating variant's effect on NF-κB-driven transcription by showing it disrupts the BRCA2-PCAF complex, reducing histone acetylation and impairing cell migration.

Nature Communications · Dec 10, 2025Peer-reviewedCancer Biology

Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma.

David Gentien, Elnaz Saberi-Ansari, Nicolas Servant, Ariane Jolly, Pierre de la Grange, Fariba Némati, Géraldine Liot, Simon Saule, Aurélie Teissandier, Déborah Bourc’his, Elodie Girard, Jennifer Wong, Julien Masliah‐Planchon, Erkan Narmanli, Yuanlong Liu, , Joshua J. Waterfall

The paper uses multi-omics analysis to compare malignant and normal uveal melanocytes, identifying genomic instability and a BAP1 promoter deletion as key features of uveal melanoma.

Cell Reports · Sep 1, 2023Peer-reviewedGenomics

Evaluation of ACMG Rules for In silico Evidence Strength Using An Independent Computational Tool Absent of Circularities on ATM and CHEK2 Breast Cancer Cases and Controls

Colin C. Young, Bing Feng, Colin B. Mackenzie, Elodie Girard, Donglei Hu, Yusuke Iwasaki, Yukihide Momozawa, Fabienne Lesueur, Elad Ziv, Susan L. Neuhausen, Sean V. Tavtigian

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.

bioRxiv · Nov 8, 2019 · PreprintGenetics