Genetic
Service
Mayo Clinic
Rochester, Estados UnidosPublications in collaboration with researchers from Mayo Clinic (54)
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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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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Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition
Schizophrenia Research
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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
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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Incorporating progesterone receptor expression into the PREDICT breast prognostic model
European Journal of Cancer, Vol. 173, pp. 178-193
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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
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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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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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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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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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Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk
Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337
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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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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