Browsing by Author "Diez Gibert, Orland"
Now showing items 1-15 of 15
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A.; Dennis, Joe; Tyrer, Jonathan; Diez Gibert, Orland; Lopez Fernandez, Adrià (Nature Research, 2021-02-17) -
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
Rofes, Paula; del Valle, Jesús; Torres Esquius, Sara; Feliubadaló, Lídia; Stradella, Agostina; Moreno-Cabrera, José Marcos; Diez Gibert, Orland; Balmaña Gelpí, Judith (MDPI, 2021-01-23) -
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Balmaña Gelpí, Judith; Diez Gibert, Orland; Barnes, Daniel (Oxford University Press, 2022-01) -
Clinical consequences of BRCA2 hypomorphism
Castells-Roca, Laia; Gutierrez Enriquez, Sara; Bonache Real, Sandra; Bogliolo, Massimo; Carrasco López, Estela; Aza-Carmona, Miriam; Montalban Canudas, Gemma; Cruz Zambrano, Cristina; Llop Guevara, Alba; Serra Elizalde, Violeta; Diez Gibert, Orland; Balmaña Gelpí, Judith; Saura Manich, Cristina (Nature Research, 2021-09-09) -
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart, Christopher; Pearson, John F; Marquart, Louise; Dennis, Joe; Wiggins, George; Balmaña Gelpí, Judith; Diez Gibert, Orland; Barnes, Daniel (Nature Research, 2022-10-06) -
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Li, Na; Zethoven, Magnus; McInerny, Simone; Devereux, Lisa; Huang, Yu-Kuan; Thio, Niko; Gutierrez Enriquez, Sara; Moles Fernandez, Alejandro; Diez Gibert, Orland (Nature Research, 2021-04-12) -
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Ferreira, Manuel A; Gamazon, Eric R; Al-Ejeh, Fares; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Balmaña Gelpí, Judith; Diez Gibert, Orland (Nature Research, 2019-04-15) -
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
De Asis Tuazon, Anna Marie; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Diez Gibert, Orland (BMC, 2020-10-21) -
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Dareng, Eileen O.; Tyrer, Jonathan; Jones, Michelle R.; Yang, Xin; Aben, Katja; Balmaña Gelpí, Judith; Diez Gibert, Orland; Barnes, Daniel (Springer Nature, 2022-03) -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Rookus, Matti A.; McGuffog, Lesley; Leslie, Goska; Mooij, Thea M.; Dennis, Joe; Balmaña Gelpí, Judith; Diez Gibert, Orland; Barnes, Daniel (Springer Nature, 2020-10) -
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Moles Fernandez, Alejandro; Domènech Vivó, Joanna; Tenés Felipe, Anna; Balmaña Gelpí, Judith; Diez Gibert, Orland; Gutierrez Enriquez, Sara (MDPI, 2021-07-03) -
Shared heritability and functional enrichment across six solid cancers
Jiang, Xia; Finucane, Hilary K; Schumacher, Fredrick R; Schmit, Stephanie L; Tyrer, Jonathan; Han, Younghun; Diez Gibert, Orland (Nature Research, 2019-01-25) -
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Lasheras, Sandra Viz; Pujol, Roser; Balmaña Gelpí, Judith; Diez Gibert, Orland (Nature Publishing Group, 2019-11-01) -
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Figlioli, Gisella; Kvist, Anders; Tham, Emma; Soukupova, Jana; Kleiblova, Petra; Muranen, Taru A; Balmaña Gelpí, Judith; Diez Gibert, Orland (MDPI, 2020-01-26) -
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu‐full, Zomoroda; Balmaña Gelpí, Judith; Diez Gibert, Orland (Wiley, 2020-07)