Xenética
Servizo
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University of Edinburgh
Edimburgo, Reino UnidoPublicacións en colaboración con investigadores/as de University of Edinburgh (21)
2023
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A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry
Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162
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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)
Nature Genetics
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Nature Genetics, Vol. 55, Núm. 1, pp. 89-99
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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587
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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers, Vol. 15, Núm. 13
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The impact of coding germline variants on contralateral breast cancer risk and survival
American Journal of Human Genetics, Vol. 110, Núm. 3, pp. 475-486
2022
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Medicine, Vol. 14, Núm. 1
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Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Research, Vol. 24, Núm. 1
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Incorporating progesterone receptor expression into the PREDICT breast prognostic model
European Journal of Cancer, Vol. 173, pp. 178-193
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Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes
JAMA Oncology, Vol. 8, Núm. 3
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Rare germline copy number variants (CNVs) and breast cancer risk
Communications biology, Vol. 5, Núm. 1, pp. 65
2021
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
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CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
British Journal of Cancer, Vol. 124, Núm. 4, pp. 842-854
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203
2020
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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Scientific reports, Vol. 10, Núm. 1, pp. 9688
2019
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Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nature Communications, Vol. 10, Núm. 1
2016
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Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of european ancestry
Human Molecular Genetics, Vol. 25, Núm. 6, pp. 1203-1214