JOSÉ ÁNGEL
GARCÍA SÁENZ
Profesor asociado
Karolinska University Hospital
Estocolmo, SueciaPublications in collaboration with researchers from Karolinska University Hospital (19)
2023
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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
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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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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
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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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Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer
Annals of Oncology, Vol. 33, Núm. 12, pp. 1250-1268
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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
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Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
Breast cancer research : BCR, Vol. 23, Núm. 1, pp. 86
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Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium
Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Scientific Reports, Vol. 11, Núm. 1
2020
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A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Nature Communications, Vol. 11, Núm. 1
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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 837-848
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
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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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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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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34
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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
2017
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
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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