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Sandrine Caputo

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Praticien scientifique/Clinical variant scientist

Institut Curie

France

Research Interests

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Professors in France Professors in Biostatistics Biostatistics professors in France

Recent Grants

Grant: Close

COVAR

Open Date: 2012-01-01

Close Date: 2012-12-01

Grant: Close

Role of the AKT1 signaling on DNA double strand break repair : molecular similarities between hereditary and sporadiques breast cancers.

Open Date: 2011-12-18

Close Date: 2015-12-18

Grant: Close

Functional and structural studies of unclassified variants of BRCA1 gene.

Open Date: 2011-08-27

Close Date: 2014-08-26

Grant: Close

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Articles (20)

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2023

Collaborators (21)

Adalgeir Arason

Clinical associate professor

ICELAND

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Giovanni Innella

Dottorandi

University of Bologna

ITALY

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Pascaline Gaildrat

PhD, Assistant Professor (MCU)

FRANCE

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Alexandra Martins

INSERM

FRANCE

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Christine Bellanné-Chantelot

Head of Molecular Genetics Laboratory

Assistance Publique - Hôpitaux de Paris

FRANCE

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Eric Pasmant

Head

Institut Curie

FRANCE

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Siddhartha Yadav

Associate Professor of Oncology

Mayo Clinic

UNITED STATES

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Inge Søkilde Pedersen

Aalborg University

DENMARK

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Diana M Eccles

Executive Dean (Faculty of Medicine)

University of Southampton

UNITED KINGDOM

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Raphael Leman

INSERM

FRANCE

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Thilo Dörk

Hannover Medical School

GERMANY

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Eladio Andrés Velasco-Sampedro

SPAIN

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Toon Van Gorp

Professor

Universitaire Ziekenhuizen Leuven

BELGIUM

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Usha Menon

Professor of Gynaecological Oncology

University College London

UNITED KINGDOM

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Manuel António Rodrigues Teixeira

Director

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Amy Berrington

Professor

Institute of Cancer Research

UNITED KINGDOM

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Yen Tan

Professor

Medical University of Vienna

AUSTRIA

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Amber Aeilts

Assistant Professor, Genetic Counselor

Ohio State University

UNITED STATES

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Fabienne Lesueur

Research Associate

INSERM

FRANCE

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Laura Cortesi

University of Modena and Reggio Emilia

ITALY

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Sandrine Caputo

Research Interests

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Recent Grants

Articles (20)

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages

BARD1 and breast cancer genetic predisposition: case-control study and HRD signature analysis.

Constitutional <i>BRCA1</i> Methylation is associated with high level of tumoral <i>BRCA1</i> methylation and homologous recombination deficiency in triple-negative breast cancer

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

PARP Inhibitor Sensitivity in Tumors Harboring Non-BRCA Homologous Recombination Gene Alterations: Current Evidence Across Ovarian, Breast, Prostate, and Pancreatic Cancers

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer.

RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

A functional assay to classify RB1 variants of uncertain significance.

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

A founder <i>BRCA1</i> exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript (vol 10, 58, 2025)

Genetic predisposition discoveries of clinical utility by exome sequencing performed for therapeutic purposes in children with relapsing or refractory cancer in the MAPPYACTS study

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Atypical cancer risk profile in carriers of Italian founder <i>BRCA1</i> variant p.His1673del: Implications for classification and clinical management

[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].

FrOG – The French OncoGenetics database

Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project

Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination (Dec, 10.1093/nar/gkad1222/7492909, 2023)

The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.

Collaborators (21)

Adalgeir Arason

Giovanni Innella

Pascaline Gaildrat

Alexandra Martins

Christine Bellanné-Chantelot

Eric Pasmant

Siddhartha Yadav

Inge Søkilde Pedersen

Diana M Eccles

Raphael Leman

Thilo Dörk

Eladio Andrés Velasco-Sampedro

Toon Van Gorp

Usha Menon

Manuel António Rodrigues Teixeira

Amy Berrington

Yen Tan

Amber Aeilts

Antonio Vitobello

Fabienne Lesueur

Laura Cortesi

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