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S

Sandrine M. Caputo

Institut Curie
H指数:29
被引数:2,661

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荣誉奖项

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Hereditary Breast Cancer in a Brazilian Referral Cohort: Germline Diversity and Genotype–Phenotype Associations

巴西转诊队列中的遗传性乳腺癌：生殖细胞系多样性及基因型-表型关联

International Journal of Molecular Sciences
IF4.9
2026-10-290
OA
André Luiz Cicilini; Patrick Vinicius Cerqueira Batista; Sandrine M. Caputo; Viviane Primo Basilio de Souza; Solange Moraes Sanchez; Fabiana Baroni Makdissi; Marina de Brot; Marina de Assis da Escossia Fernandes; Beatriz Nelli Barbatto; Elizabeth Santana dos Santos
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

RNA剪接证据能够实现BRCA1外显子18变异的稳健分类：ENIGMA联盟的研究结果

American Journal of Human Genetics
IF8.1
2026-09-010
PRE
Domenech-Vivo, Joanna; Tubeuf, Helene; Mesman, Romy L. S.; Drouet, Aurelie; Girardi, Melanie; Alonso-Cerezo, Maria Concepcion; Baralle, Diana; Boutry-Kryza, Nadia; Bunyan, David J.; Byers, Helen J.; Caputo, Sandrine M.; Claes, Kathleen B. M.; De la Hoya, Miguel; Evans, D. Gareth; Fresard, Laure; Krieger, Sophie; Lazaro, Conxi; Leone, Melanie; Machackova, Eva; Menendez, Mireia; Moles-Fernandez, Alejandro; Montalban, Gemma; Mundt, Erin; Richardson, Marcy E.; Van Veen, Elke M.; Weyandt, Jamie; Balmana, Judith; Spurdle, Amanda B.; Diez, Orland; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gutierrez-Enriquez, Sara
PARP Inhibitor Sensitivity in Tumors Harboring Non-BRCA Homologous Recombination Gene Alterations: Current Evidence Across Ovarian, Breast, Prostate, and Pancreatic Cancers

PARP抑制剂在携带非BRCA同源重组基因改变的肿瘤中的敏感性：卵巢癌、乳腺癌、前列腺癌和胰腺癌的当前证据

International Journal of Molecular Sciences
IF4.9
2026-08-120
OA
Elizabeth Santana dos Santos; André Luiz Cicilini; Maria Fernanda Evangelista Simões; Maria Baz; Sandrine M. Caputo; Etienne Rouleau
BARD1 and breast cancer genetic predisposition: case–control study and HRD signature analysis

BARD1与乳腺癌遗传易感性：病例对照研究及同源重组缺陷特征分析

Breast Cancer
IF2.9
2026-07-240
PRE
Marie-Florence Reveneau; Antoine De Pauw; Julien Masliah-Planchon; Antoine Decees; Salma Lakhlifi; Justine Pasanisi; Jessica Le Gall; Mathias Schwartz; Mélanie Pagès; Elise Pierre-Noël; Molka Sebai; Sandrine M. Caputo; Virginie Moncoutier; Henrique Tenreiro; Christelle Berthemin; Jennifer Carrière; Catherine Dubois d’Enghien; Khadija Abidallah; Christophe Guy; Nicolas Fort; Narjes Zaguia; Anaïs Curto Taribo; Olfa Trabelsi Grati; Leslie Lori; Arnaud Maillard; Camille Benoist; Eleonore Frouin; Kévin Merchadou; Fabien Quinquis; Mathilde Filser; Hélène Delhomelle; Marine Le Mentec; Mathilde Warcoin; Ophélie Bertrand; Marie-Charlotte Villy; Claire Saule; Emmanuelle Mouret-Fourme; Marion Gauthier-Villars; Bruno Buecher; Tatiana Popova; Marc-Henri Stern; Victor Renault; Eric Pasmant; Dominique Stoppa-Lyonnet; Chrystelle Colas; Lisa Golmard
A functional assay to classify RB1 variants of uncertain significance

一种功能实验用于分类RB1不确定意义变异

Genetics in Medicine
IF6.2
2025-11-130
PRE
Jessica Le Gall; Catherine Dehainault; Ambre Petitalot; Elsa Amouyal; Jeanne Petitou; Sandrine M. Caputo; François Radvanyi; Alexandre Matet; Nathalie Cassoux; Livia Lumbroso-Le Rouic; Isabelle Aerts; François Doz; Marion Gauthier-Villars; Dominique Stoppa-Lyonnet; Claude Houdayer; Lisa Golmard; François Lallemand
Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

作者更正：一种涉及T2T参考基因组特异区域断点的始祖BRCA1外显子复制导致胚系融合转录本的产生。

npj Genomic Medicine
IF4.8
2025-09-020
OAAI
Mathias Schwartz; Mathilde Filser; Kevin Merchadou; Elisa Lemaitre; Khadija Abidallah; Henrique Tenreiro; Catherine Dubois D’enghien; Audrey Rapinat; Elise Pierre-Noel; Voreak Suybeng; Marion Espenel; Sylvain Baulande; Séverine Adams; Audrey Remenieras; Crystal Renaud; Camille Aucouturier; Capucine Delnatte; Céline Garrec; Victor Renault; Lisa Golmard; Emmanuelle Fourme; Julien Masliah-Planchon; Sandrine M. Caputo
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

一个始祖BRCA1外显子重复，涉及T2T参考基因组特异区域的断裂点，导致体细胞融合转录本

npj Genomic Medicine
IF4.8
2025-07-310
OAAI
Mathias Schwartz; Mathilde Filser; Kevin Merchadou; Elisa Lemaitre; Khadija Abidallah; Henrique Tenreiro; Catherine Dubois D’enghien; Audrey Rapinat; Elise Pierre-Noel; Voreak Suybeng; Marion Espenel; Sylvain Baulande; Séverine Adams; Audrey Remenieras; Crystal Renaud; Camille Aucouturier; Capucine Delnatte; Céline Garrec; Victor Renault; Lisa Golmard; Emmanuelle Fourme; Julien Masliah-Planchon; Sandrine M. Caputo
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-0112
OAAI
Parsons, Michael T.; de la Hoya, Miguel; Richardson, Marcy E.; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M.; Chan, Raymond C.; Cline, Melissa S.; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; San Leong, Huei; Martins, Alexandra; Mensenkamp, Arjen R.; Monteiro, Alvaro N.; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A.; Toland, Amanda E.; Turnbull, Clare; Vogel, Maartje J.; Weyandt, Jamie; Wiggins, George A. R.; Zec, Lauren; Couch, Fergus J.; Walker, Logan C.; Vreeswijk, Maaike P. G.; Goldgar, David E.; Spurdle, Amanda B.
Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project
CANCER RESEARCH
IF16.6
2024-03-220
PRE
Lyra, Paulo; Dalcolmo, Lucas; Parsons, Michael; Nepomuceno, Thales; Brito, Samuel; Nguyen, Nam Phuong N.; de Oliveira, Geise; da Siva, Joao Paulo; Caleca, Laura; Taneja, Tanisha; Hu, Chunling; Richardson, Marcy; Rossing, Maria; Hazra, Aditi; Martins, Alexandra; Caputo, Sandrine; Millot, Gael A.; Yie, Joanne NgeowYuen; Carvalho, Marcelo A.; Cline, Melissa; Radice, Paolo; Carlsen, Rachael; Mesman, Romy; Zampiga, Valentina; Villani, Rehan; Josef, Vijay; Sharan, Shyam; Michailidou, Kyriaki; Spurdle, Amanda B.; Couch, Fergus; Vreeswijk, Maaike P. G.; Monteiro, Alvaro N.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement
BREAST
IF7.9
2024-02-010
OAAI
Schwartz, Mathias; Ibadioune, Sabrina; Vacher, Sophie; Villy, Marie-Charlotte; Trabelsi-Grati, Olfa; Le Gall, Jessica; Caputo, Sandrine M.; Delhomelle, Helene; Warcoin, Mathilde; Moncoutier, Virginie; Bourneix, Christine; Boutry-Kryza, Nadia; De Pauw, Antoine; Stern, Marc-Henri; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Colas, Chrystelle; Stoppa-Lyonnet, Dominique; Masliah-Planchon, Julien; Golmard, Lisa; Bieche, Ivan
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination

BRCA2 R2645G变体增加DNA结合并诱导超重组

NUCLEIC ACIDS RESEARCH
IF13.1
2023-12-231
OAAI
Alvaro-Aranda, Lucia; Petitalot, Ambre; Djeghmoum, Yasmina; Panigada, Davide; Singh, JennyKaur; Ehlen, Asa; Vugic, Domagoj; Martin, Charlotte; Miron, Simona; Contreras-Perez, Aida; Nhiri, Naima; Boucherit, Virginie; Lafitte, Philippe; Dumoulin, Isaac; Rouleau, Etienne; Jacquet, Eric; Feliubadalo, Lidia; del Valle, Jesus; Stoppa-Lyonnet, Dominique; Zinn-Justin, Sophie; Lazaro, Conxi; Caputo, Sandrine M.; Carreira, Aura
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-09-253
PRE
Schwartz, Mathias; Ibadioune, Sabrina; Chansavang, Albain; Vacher, Sophie; Caputo, Sandrine M.; Delhomelle, Helene; Wong, Jennifer; Abidallah, Khadija; Moncoutier, Virginie; Becette, Veronique; Popova, Tatiana; Suybeng, Voreak; De Pauw, Antoine; Stern, Marc-Henri; Colas, Chrystelle; Mouret-Fourme, Emmanuelle; Stoppa-Lyonnet, Dominique; Golmard, Lisa; Bieche, Ivan; Masliah-Planchon, Julien
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

在罕见序列变异的临床分类中利用病例对照数据的似然比方法: 在BRCA1和BRCA2中的应用

HUMAN MUTATION
IF3.7
2023-09-141
OAAI
Zanti, Maria; O'Mahony, Denise G.; Parsons, Michael T.; Li, Hongyan; Dennis, Joe; Aittomakkiki, 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; Czene, Kamila; Daly, Mary B.; De Nicolo, Arcangela; Devilee, Peter; Dork, Thilo; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Engel, Christoph; Evans, D. Gareth; Fasching, Peter A.; Gago-Dominguez, Manuela; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gentry-Maharaj, Aleksandra; Geurts-Giele, Willemina R. R.; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Garcia, Encarna B. Gomez; Guendert, Melanie; Guenel, Pascal; Hahnen, Eric; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Harkness, Elaine F.; Hogervorst, Frans B. L.; Hollestelle, Antoinette; Hoppe, Reiner; Hopper, John L.; Houdayer, Claude; Houlston, Richard S.; Howell, Anthony; Investigators, Abctb; Jakimovska, Milena; Jakubowska, Anna; Jernstrom, Helena; John, Esther M.; Kaaks, Rudolf; Kitahara, Cari M.; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N.; Lacey, James, V; Lambrechts, Diether; Leone, Melanie; Lindblom, Annika; Lush, Michael; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Menon, Usha; Milne, Roger L.; Monteiro, Alvaro N.; Murphy, Rachel A.; Neuhausen, Susan L.; Nevanlinna, Heli; Newman, William G.; Offit, Kenneth; Park, Sue K.; James, Paul; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Punie, Kevin; Radice, Paolo; Rashid, Muhammad U.; Rennert, Gad; Romero, Atocha; Rosenberg, Efraim H.; Saloustros, Emmanouil; Sandler, Dale P.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C.; Stone, Jennifer; Stoppa-Lyonnet, Dominique; Tamimi, Rulla M.; Tapper, William J.; Taylor, Jack A.; Teo, Soo Hwang; Teras, Lauren R.; Terry, Mary Beth; Thomassen, Mads; Troester, Melissa A.; Vachon, Celine M.; Vega, Ana; Vreeswijk, Maaike P. G.; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R.; Wolk, Alicja; Zheng, Wei; Feng, Bingjian; Couch, Fergus J.; Spurdle, Amanda B.; Easton, Douglas F.; Goldgar, David E.; Michailidou, Kyriaki
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition

生殖系HPF1逆转录基因插入RB1基因参与癌症易感性

JOURNAL OF MEDICAL GENETICS
IF3.7
2023-08-040
PRE
Le Gall, Jessica; Dehainault, Catherine; Boutte, Matteo; Petitalot, Ambre; Caputo, Sandrine M.; Courtois, Laura; Vacher, Sophie; Bieche, Ivan; Radvanyi, Francois; Pacquement, Helene; Doz, Francois; Lumbroso-Le Rouic, Livia; Gauthier Villars, Marion; Stoppa-Lyonnet, Dominique; Lallemand, Francois; Houdayer, Claude; Golmard, Lisa
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

在法国女性中，乳腺癌的多基因风险评分的关联和表现是否具有该疾病的家族性易感性

EUROPEAN JOURNAL OF CANCER
IF7.1
2023-01-013
OAAI
Jiao, Yue; Truong, Therese; Eon-Marchais, Severine; Mebirouk, Noura; Caputo, Sandrine M.; Dondon, Marie-Gabrielle; Karimi, Mojgan; Le Gal, Dorothee; Beauvallet, Juana; Le Floch, Edith; Dandine-Roulland, Claire; Bacq-Daian, Delphine; Olaso, Robert; Albuisson, Juliette; Audebert-Bellanger, Severine; Berthet, Pascaline; Bonadona, Valerie; Buecher, Bruno; Caron, Olivier; Cavaille, Mathias; Chiesa, Jean; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; Coupier, Isabelle; Delnatte, Capucine; De Pauw, Antoine; Dreyfus, Helene; Fert-Ferrer, Sandra; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Golmard, Lisa; Lasset, Christine; Lejeune-Dumoulin, Sophie; Leone, Melanie; Limacher, Jean-Marc; Lortholary, Alain; Luporsi, Elisabeth; Mari, Veronique; Maugard, Christine M.; Mortemousque, Isabelle; Mouret-Fourme, Emmanuelle; Nambot, Sophie; Nogues, Catherine; Popovici, Cornel; Prieur, Fabienne; Pujol, Pascal; Sevenet, Nicolas; Sobol, Hagay; Toulas, Christine; Uhrhammer, Nancy; Vaur, Dominique; Venat, Laurence; Boland-Auge, Anne; Guenel, Pascal; Deleuze, Jean-Francois; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
HUMAN MUTATION
IF3.7
2022-11-2038
PRE
Leman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie

研究方向

暂未获取到该数据
D
Dominique Stoppa‐Lyonnet
H 指数:83论文数:659被引数:3.4万
A
Amanda B. Spurdle
H 指数:95论文数:816被引数:4.0万
M
Michael T. Parsons
H 指数:43论文数:181被引数:7,345
C
Claude Houdayer
H 指数:31论文数:156被引数:5,172
L
Lisa Golmard
H 指数:29论文数:139被引数:3,074
S
Sophie Krieger
H 指数:29论文数:129被引数:3,110
A
Alexandra Martins
H 指数:32论文数:230被引数:3,897
É
Étienne Rouleau
H 指数:45论文数:518被引数:8,327
C
Capucine Delnatte
H 指数:26论文数:126被引数:3,289
L
Laurent Castéra
H 指数:31论文数:141被引数:3,714