Xenética
Servizo
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Karolinska University Hospital
Estocolmo, SueciaPublicacións en colaboración con investigadores/as de Karolinska University Hospital (38)
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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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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Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes
Gastroenterology
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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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Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers, Vol. 15, Núm. 13
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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Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes
JAMA Oncology, Vol. 8, Núm. 3
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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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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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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Scientific Reports, Vol. 11, Núm. 1
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Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)
Nature Genetics
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
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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Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer
Gastroenterology, Vol. 158, Núm. 5, pp. 1274-1286.e12