Easton, Douglas F.

Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooij, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., et al. (2017) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

Ravikumar, B., Vacher, C., Berger, Z., Davies, J. E., Luo, S., Oroz, L. G., Scaravilli, F., Easton, D. F., Duden, R., O'Kane, C. J., et al. (2004) · Nature Genetics

Genetic Neurodegenerative DiseasesAutophagy in Disease and Therapy

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Genome-wide association study identifies novel breast cancer susceptibility loci

Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., et al. (2013) · JNCI: Journal of the National Cancer Institute

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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

Plon, S. E., Eccles, D. M., Easton, D., Foulkes, W. D., Genuardi, M., Greenblatt, M. S., Hogervorst, F. B. L., Hoogerbrugge, N., Spurdle, A. B., Tavtigian, S. V., et al. (2008) · Human Mutation

BRCA gene mutations in cancerGenomics and Rare Diseases

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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Study, T. P., Schumacher, F. R., (APCB), A. P. C. B., Study, T. I., Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, (CAPS), C. O. T. P. I. S., Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyProstate Cancer Treatment and Research

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A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics

BRCA gene mutations in cancerDNA Repair Mechanisms

Cited by 746

Using human genetics to understand the disease impacts of testosterone in men and women

The Endometrial Cancer Association Consortium, Ruth, K. S., Day, F. R., Tyrrell, J., Thompson, D. J., Wood, A. R., Mahajan, A., Beaumont, R. N., Wittemans, L., Martin, S., et al. (2020) · Nature Medicine

Hormonal and reproductive studiesGenetic Associations and Epidemiology

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Multifactorial Analysis of Differences Between Sporadic Breast Cancers and Cancers Involving BRCA1 and BRCA2 Mutations

Lakhani, S. R., Jacquemier, J., Sloane, J. P., Gusterson, B. A., Anderson, T. J., van de Vijver, M. J., Farid, L. M., Venter, D., Antoniou, A., Storfer-Isser, A., et al. (1998) · JNCI Journal of the National Cancer Institute

BRCA gene mutations in cancerBreast Lesions and Carcinomas

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

Yang, X. R., Chang-Claude, J., Goode, E. L., Couch, F. J., Nevanlinna, H., Milne, R. L., Gaudet, M., Schmidt, M. K., Broeks, A., Cox, A., et al. (2011) · JNCI: Journal of the National Cancer Institute

Cancer Risks and FactorsBreast Cancer Treatment Studies

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Genome-wide association study identifies five new breast cancer susceptibility loci

The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

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Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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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

Study, T. L. C., Day, F. R., The InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Thompson, D. J., Helgason, H., Chasman, D. I., et al. (2017) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

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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

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

The GIANT Consortium, Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., et al. (2010) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., Tavtigian, S. V., Monteiro, A. N. A., Iversen, E. S., Couch, F. J., et al. (2007) · The American Journal of Human Genetics

BRCA gene mutations in cancerGenomics and Rare Diseases

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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

The PRACTICAL Consortium, Day, F. R., kConFab Investigators, AOCS Investigators, Scotland, G., EPIC-InterAct Consortium, Study, L. C., Ruth, K. S., Thompson, D. J., Lunetta, K. L., et al. (2015) · Nature Genetics

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

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Mutational signatures of ionizing radiation in second malignancies

Behjati, S., Gundem, G., Wedge, D. C., Roberts, N. D., Tarpey, P. S., Cooke, S. L., Van Loo, P., Alexandrov, L. B., Ramakrishna, M., Davies, H., et al. (2016) · Nature Communications

Cancer Genomics and DiagnosticsDNA Repair Mechanisms

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

EMBRACE, Kuchenbaecker, K. B., Collaborators, G. S., Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Ramus, S. J., et al. (2015) · Nature Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

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A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome

Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D. F., Ponder, B. A. J., & Stratton, M. R. (1992) · Nature Genetics

Male Breast Health StudiesSexual Differentiation and Disorders

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