Spurdle, Amanda B.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

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Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies

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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., et al. (2015) · JAMA

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Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CH EK 2 *1100delC Carriers

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Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Thompson, B. A., Greenblatt, M. S., Vallee, M. P., Herkert, J. C., Tessereau, C., Young, E. L., Adzhubey, I. A., Li, B., Bell, R., Feng, B., et al. (2013) · Human Mutation

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Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

Nones, K., Johnson, J., Newell, F., Patch, A. M., Thorne, H., Kazakoff, S. H., de Luca, X. M., Parsons, M. T., Ferguson, K., Reid, L. E., et al. (2019) · Annals of Oncology

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Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

Gusev, A., Shi, H., Kichaev, G., Pomerantz, M., Li, F., Long, H. W., Ingles, S. A., Kittles, R. A., Strom, S. S., Rybicki, B. A., et al. (2016) · Nature Communications

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Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci

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Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

Whiley, P. J., Parsons, M. T., Leary, J., Tucker, K., Warwick, L., Dopita, B., Thorne, H., Lakhani, S. R., Goldgar, D. E., Brown, M. A., et al. (2014) · PLoS ONE

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