Works by Caputo, Sandrine M.

Results: 18

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

Published in:

Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01885-1

By:

Schwartz, Mathias;
Ibadioune, Sabrina;
Delhomelle, Hélène;
Barraud, Solenn;
Caputo, Sandrine M.;
Trabelsi-Grati, Olfa;
Villy, Marie-Charlotte;
Laugé, Anthony;
Tang, Roseline;
Rouleau, Etienne;
Mouret-Fourme, Emmanuelle;
Stoppa-Lyonnet, Dominique;
Pasmant, Éric;
Golmard, Lisa;
Colas, Chrystelle;
Bièche, Ivan

Publication type:

Article

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2.

Published in:

Human Mutation, 2023, p. 1, doi. 10.1155/2023/9961341

By:

Zanti, Maria;
O'Mahony, Denise G.;
Parsons, Michael T.;
Li, Hongyan;
Dennis, Joe;
Aittomäkkiki, Kristiina;
Andrulis, Irene L.;
Anton-Culver, Hoda;
Aronson, Kristan J.;
Augustinsson, Annelie;
Becher, Heiko;
Bojesen, Stig E.;
Bolla, Manjeet K.;
Brenner, Hermann;
Brown, Melissa A.;
Buys, Saundra S.;
Canzian, Federico;
Caputo, Sandrine M.;
Castelao, Jose E.;
Chang-Claude, Jenny

Publication type:

Article

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313

By:

Sebai, Molka;
Tulasne, David;
Caputo, Sandrine M.;
Verkarre, Virginie;
Fernandes, Marie;
Guérin, Célia;
Reinhart, Fanny;
Adams, Séverine;
Maugard, Christine;
Caron, Olivier;
Guillaud‐Bataille, Marine;
Berthet, Pascaline;
Bignon, Yves‐Jean;
Bressac‐de Paillerets, Brigitte;
Burnichon, Nelly;
Chiesa, Jean;
Giraud, Sophie;
Lejeune, Sophie;
Limacher, Jean‐Marc;
de Pauw, Antoine

Publication type:

Article

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2025, doi. 10.1002/humu.23652

By:

Burke, Leslie J.;
Sevcik, Jan;
Gambino, Gaetana;
Tudini, Emma;
Mucaki, Eliseos J.;
Shirley, Ben C.;
Whiley, Phillip;
Parsons, Michael T.;
Leeneer, Kim;
Gutiérrez‐Enríquez, Sara;
Santamariña, Marta;
Caputo, Sandrine M.;
Santana dos Santos, Elizabeth;
Soukupova, Jana;
Janatova, Marketa;
Zemankova, Petra;
Lhotova, Klara;
Stolarova, Lenka;
Borecka, Mariana;
Moles‐Fernández, Alejandro

Publication type:

Article

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113

By:

Béroud, Christophe;
Letovsky, Stanley I.;
Braastad, Corey D.;
Caputo, Sandrine M.;
Beaudoux, Olivia;
Bignon, Yves Jean;
Paillerets, Brigitte;
Bronner, Myriam;
Buell, Crystal M.;
Collod‐Béroud, Gwenaëlle;
Coulet, Florence;
Derive, Nicolas;
Divincenzo, Christina;
Elzinga, Christopher D.;
Garrec, Céline;
Houdayer, Claude;
Karbassi, Izabela;
Lizard, Sarab;
Love, Angela;
Muller, Danièle

Publication type:

Article

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 151, doi. 10.1002/humu.22478

By:

Guidugli, Lucia;
Carreira, Aura;
Caputo, Sandrine M.;
Ehlen, Asa;
Galli, Alvaro;
Monteiro, Alvaro N.A.;
Neuhausen, Susan L.;
Hansen, Thomas V.O.;
Couch, Fergus J.;
Vreeswijk, Maaike P.G.

Publication type:

Article

A guide for functional analysis of BRCA1 variants of uncertain significance.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150

By:

Millot, Gaël A.;
Carvalho, Marcelo A.;
Caputo, Sandrine M.;
Vreeswijk, Maaike P.G.;
Brown, Melissa A.;
Webb, Michelle;
Rouleau, Etienne;
Neuhausen, Susan L.;
Hansen, Thomas v. O.;
Galli, Alvaro;
Brandão, Rita D.;
Blok, Marinus J.;
Velkova, Aneliya;
Couch, Fergus J.;
Monteiro, Alvaro N.A.

Publication type:

Article

Is BRCA2 involved in early onset colorectal cancer risk?

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 668, doi. 10.1111/cge.13679

By:

Gay‐Bellile, Mathilde;
Privat, Maud;
Martins, Alexandra;
Caputo, Sandrine M.;
Pebrel‐Richard, Céline;
Cavaillé, Mathias;
Viala, Sandrine;
Corsini, Carole;
Rodrigues, Michael;
Barnich, Nicolas;
Bidet, Yannick;
Uhrhammer, Nancy;
Bignon, Yves‐Jean

Publication type:

Article

Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.

Published in:

Therapeutic Advances in Medical Oncology, 2023, p. 1, doi. 10.1177/17588359221146132

By:

Debbabi, Inès;
Vacher, Sophie;
Neuzillet, Cindy;
Cros, Jérome;
Revillon, Françoise;
Petitalot, Ambre;
Turpin, Anthony;
Antonio, Samantha;
Girard, Elodie;
Dupain, Célia;
Kamal, Maud;
Hammel, Pascal;
Bièche, Ivan;
Masliah-Planchon, Julien;
Caputo, Sandrine M.

Publication type:

Article

The high protein expression of FOXO3, but not that of FOXO1, is associated with markers of good prognosis.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63895-8

By:

Lallemand, François;
Vacher, Sophie;
de Koning, Leanne;
Petitalot, Ambre;
Briaux, Adrien;
Driouch, Keltouma;
Callens, Céline;
Schnitzler, Anne;
Lecerf, Caroline;
Oulie-Bard, Floriane;
Barbet, Aurélie;
Vincent, Anne;
Zinn-Justin, Sophie;
Lopez, Bernard S.;
Lidereau, Rosette;
Bieche, Ivan;
Caputo, Sandrine M.

Publication type:

Article

Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.

Published in:

Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 1060, doi. 10.3390/biom11071060

By:

Julien, Manon;
Ghouil, Rania;
Petitalot, Ambre;
Caputo, Sandrine M.;
Carreira, Aura;
Zinn-Justin, Sophie

Publication type:

Article

Genetic Landscape of Male Breast Cancer.

Published in:

Cancers, 2021, v. 13, n. 14, p. 3535, doi. 10.3390/cancers13143535

By:

Campos, Fernando Augusto Batista;
Rouleau, Etienne;
Torrezan, Giovana Tardin;
Carraro, Dirce Maria;
Casali da Rocha, José Claudio;
Mantovani, Higor Kassouf;
da Silva, Leonardo Roberto;
Osório, Cynthia Aparecida Bueno de Toledo;
Moraes Sanches, Solange;
Caputo, Sandrine M.;
Santana dos Santos, Elizabeth

Publication type:

Article

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

Published in:

Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171

By:

Caputo, Sandrine M.;
Telly, Dominique;
Briaux, Adrien;
Sesen, Julie;
Ceppi, Maurizio;
Bonnet, Françoise;
Bourdon, Violaine;
Coulet, Florence;
Castera, Laurent;
Delnatte, Capucine;
Hardouin, Agnès;
Mazoyer, Sylvie;
Schultz, Inès;
Sevenet, Nicolas;
Uhrhammer, Nancy;
Bonnet, Céline;
Tilkin-Mariamé, Anne-Françoise;
Houdayer, Claude;
Moncoutier, Virginie;
Andrieu, Catherine

Publication type:

Article

Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.

Published in:

Cancers, 2018, v. 10, n. 11, p. 453, doi. 10.3390/cancers10110453

By:

Santana dos Santos, Elizabeth;
Lallemand, François;
Burke, Leslie;
Stoppa-Lyonnet, Dominique;
Brown, Melissa;
Caputo, Sandrine M.;
Rouleau, Etienne

Publication type:

Article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Published in:

Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212

By:

Leman, Raphaël;
Gaildrat, Pascaline;
Le Gac, Gérald;
Ka, Chandran;
Fichou, Yann;
Audrezet, Marie-Pierre;
Caux-Moncoutier, Virginie;
Caputo, Sandrine M;
Boutry-Kryza, Nadia;
Léone, Mélanie;
Mazoyer, Sylvie;
Bonnet-Dorion, Françoise;
Sevenet, Nicolas;
Guillaud-Bataille, Marine;
Rouleau, Etienne;
Bressac-de Paillerets, Brigitte;
Wappenschmidt, Barbara;
Rossing, Maria;
Muller, Danielle;
Bourdon, Violaine

Publication type:

Article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Published in:

Nucleic Acids Research, 2018, v. 46, n. 15, p. 7913, doi. 10.1093/nar/gky372

By:

Leman, Raphaël;
Gaildrat, Pascaline;
Gac, Gérald L;
Ka, Chandran;
Fichou, Yann;
Audrezet, Marie-Pierre;
Caux-Moncoutier, Virginie;
Caputo, Sandrine M;
Boutry-Kryza, Nadia;
Léone, Mélanie

Publication type:

Article

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11570, doi. 10.3390/ijms241411570

By:

Borcoman, Edith;
Santana dos Santos, Elizabeth;
Genestie, Catherine;
Pautier, Patricia;
Lacroix, Ludovic;
Caputo, Sandrine M.;
Cabaret, Odile;
Guillaud-Bataille, Marine;
Michels, Judith;
Auguste, Aurelie;
Leary, Alexandra;
Rouleau, Etienne

Publication type:

Article

HRness in Breast and Ovarian Cancers.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3850, doi. 10.3390/ijms21113850

By:

Santana dos Santos, Elizabeth;
Lallemand, François;
Petitalot, Ambre;
Caputo, Sandrine M.;
Rouleau, Etienne

Publication type:

Article