JOSÉ ÁNGEL
GARCÍA SÁENZ
Profesor asociado
University College London
Londres, Reino UnidoPublicacions en col·laboració amb investigadors/es de University College London (19)
2023
-
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
-
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Medicine, Vol. 15, Núm. 1
-
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197
2022
-
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Research, Vol. 24, Núm. 1
-
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170
2021
-
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
-
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
British Journal of Cancer, Vol. 125, Núm. 8, pp. 1135-1145
2020
-
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
-
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Scientific reports, Vol. 10, Núm. 1, pp. 9688
-
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Genetic Epidemiology, Vol. 44, Núm. 5, pp. 442-468
2019
-
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
-
Genome-wide association study of germline variants and breast cancer-specific mortality
British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657
-
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34
-
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
-
Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
-
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
-
Two truncating variants in FANCC and breast cancer risk
Scientific Reports, Vol. 9, Núm. 1
2017
-
Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
-
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778