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» Authors » Capucine Delnatte

Capucine Delnatte

Explore the profile of Capucine Delnatte including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 42
Citations 1258
Followers 0
Related Specialties
Oncology
Genetics
Biochemistry
Top 10 Co-Authors
Dominique Stoppa-Lyonnet
Sylvie Mazoyer
Christine Lasset
Claude Houdayer
Pascal Pujol
Marion Gauthier-Villars
Olivier Caron
Pascaline Berthet
Amanda B Spurdle
Catherine Nogues
Published In
Am J Hum Genet
Breast Cancer Res
Nucleic Acids Res
Int J Cancer
Cancer Epidemiol Biomarkers Prev
Affiliations
Soon will be listed here.
Recent Articles
1.
Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images
Bourgade R, Rabilloud N, Perennec T, Pecot T, Garrec C, Guedon A, et al.
Mod Pathol . 2023 Aug; 36(11):100304. PMID: 37580018
BRCA1 and BRCA2 genes play a crucial role in repairing DNA double-strand breaks through homologous recombination. Their mutations represent a significant proportion of homologous recombination deficiency and are a reliable...
2.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo S, Dondon M, et al.
Eur J Cancer . 2022 Dec; 179:76-86. PMID: 36509001
Background: Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for...
3.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, et al.
Commun Biol . 2022 Oct; 5(1):1061. PMID: 36203093
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis...
4.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Kury S, Ebstein F, Molle A, Besnard T, Lee M, Vignard V, et al.
Am J Hum Genet . 2022 Jan; 109(2):361-372. PMID: 35051358
Nuclear deubiquitinase BAP1 (BRCA1-associated protein 1) is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). BAP1 is a tumor suppressor whose...
5.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Caputo S, Golmard L, Leone M, Damiola F, Guillaud-Bataille M, Revillion F, et al.
Am J Hum Genet . 2021 Oct; 108(10):1907-1923. PMID: 34597585
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention...
6.
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing
Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon M, Golmard L, et al.
Cancers (Basel) . 2021 Aug; 13(15). PMID: 34359559
Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC...
7.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Guerra M, Coignard J, Eon-Marchais S, Dondon M, Le Gal D, Beauvallet J, et al.
Breast Cancer Res . 2021 Aug; 23(1):79. PMID: 34344426
Background: Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases with increased age at exposure, with possible...
8.
5' Region Large Genomic Rearrangements in the Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
Caputo S, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, et al.
Cancers (Basel) . 2021 Jul; 13(13). PMID: 34202044
Background: Large genomic rearrangements (LGR) in consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5' region from...
9.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility
Lonjou C, Eon-Marchais S, Truong T, Dondon M, Karimi M, Jiao Y, et al.
Int J Cancer . 2020 Dec; 148(8):1895-1909. PMID: 33368296
Single-nucleotide polymorphisms (SNPs) in over 180 loci have been associated with breast cancer (BC) through genome-wide association studies involving mostly unselected population-based case-control series. Some of them modify BC risk...
10.
National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract
Dhooge M, Baert-Desurmont S, Corsini C, Caron O, Andrieu N, Berthet P, et al.
Eur J Med Genet . 2020 Oct; 63(12):104080. PMID: 33039684
In case of suspected hereditary predisposition to digestive cancers, next-generation sequencing can analyze simultaneously several genes associated with an increased risk of developing these tumors. Thus, "Gastro Intestinal" (GI) gene...