Ana
Vega Gliemmo
Leiden University Medical Center
Leiden, HolandaPublicaciones en colaboración con investigadores/as de Leiden University Medical Center (23)
2023
2022
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
2021
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
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Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737
2020
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Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nature Genetics, Vol. 52, Núm. 6, pp. 572-581
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666
2019
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
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Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)
Nature Communications
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Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2018
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620
2017
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Nature Genetics, Vol. 49, Núm. 5, pp. 680-691
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778