Genetic
Service
University of Sydney
Sídney, AustraliaPublications in collaboration with researchers from University of Sydney (33)
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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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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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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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
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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Baseline predictors for visual acuity loss during observation in diabetic macular oedema with good baseline visual acuity
Acta Ophthalmologica, Vol. 98, Núm. 7, pp. e801-e806
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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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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1