Grupo en Genética y Epidemiología del Cáncer
Publicaciones (240) Publicaciones en las que ha participado algún/a investigador/a
2024
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 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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A second update on mapping the human genetic architecture of COVID-19
Nature
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Medicine, Vol. 15, Núm. 1
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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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Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1849-1863
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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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Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z)
Nature Genetics
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DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population
American Journal of Human Biology, Vol. 35, Núm. 6
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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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Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes
Gastroenterology
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
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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
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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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Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights
European Urology, Vol. 84, Núm. 1, pp. 127-137
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PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
npj Breast Cancer, Vol. 9, Núm. 1
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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