Douglas Easton | |
---|---|
Nationality | United Kingdom |
Education | University of Cambridge University of London |
Known for | Research on the genetics of breast cancer |
Awards | AACR/Susan Komen Outstanding Investigator Award for Breast Cancer Research (2008) |
Scientific career | |
Fields | Cancer epidemiology Genetic epidemiology |
Institutions | University of Cambridge |
Thesis | Some problems in the genetic epidemiology of cancer (1992) |
Douglas F. Easton FMedSci is a British epidemiologist who conducts research on the genetics of human cancers. He is Professor of Genetic Epidemiology and Centre for Cancer Genetic Epidemiology at the University of Cambridge. He founded Cambridge's Cancer Research UK Genetic Epidemiology Unit in 1995, and was a Principal Research Fellow there from 2001 to 2011. [1] He is a Professorial Fellow of Homerton College, Cambridge. [2]
Easton's research focuses on identifying single-nucleotide polymorphisms that increase the risk of common human cancers, in part through the use of genome-wide association studies. [1] In 2007, he and his colleagues reported that they had found four genes associated with breast cancer, based on a study of almost 50,000 women. [3] [4] The gene with the strongest association with breast cancer risk was FGFR2; women with two copies of the gene's high-risk allele had a 60% increased risk of breast cancer. [5] This finding was described by New Scientist as "...the most significant advance in the genetics of breast cancer since researchers implicated the genes BRCA1 and BRCA2". [6] He has since published additional research identifying genes associated with breast cancer risk. [7] [8]
Easton was elected a Fellow of the Academy of Medical Sciences in 2002. [9] In 2008, the American Association for Cancer Research chose him to receive its inaugural Outstanding Investigator Award in Breast Cancer Research in recognition of his research on the genetics of breast cancer. [10] In 2019 (March 14), the Karolinska Institutet in Stockholm, Sweden awarded him an honorary Doctorate of Medicine. [11]
Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene that also express an associated trait. In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. BRCA1 is a human tumor suppressor gene and is responsible for repairing DNA.
Kári Stefánsson is an Icelandic neurologist and founder and CEO of Reykjavik-based biopharmaceutical company deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. His work has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. This population approach has served as a model for national genome projects around the world and contributed to the realization of several aspects of precision medicine.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
Myriad Genetics, Inc. is an American molecular diagnostic company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease. This information is used to guide the development of new molecular diagnostic products that assess an individual's risk for developing disease later in life, identify a patient's likelihood of responding to a particular drug therapy, assess a patient's risk of disease progression and disease recurrence, and measure disease activity.
Roxana Moslehi is an Iranian-born genetic epidemiologist.
Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the PALB2 gene.
TOX high mobility group box family member 3, also known as TOX3, is a human gene.
Alan Ashworth, FRS is a British molecular biologist, noted for his work on genes involved in cancer susceptibility. He is currently the President of the UCSF Helen Diller Family Comprehensive Cancer Center at the University of California, San Francisco, a multidisciplinary research and clinical care organisation that is one of the largest cancer centres in the Western United States. He was previously CEO of the Institute of Cancer Research (ICR) in London.
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact. Harmful mutations in these genes may produce a hereditary breast–ovarian cancer syndrome in affected persons. Only 5–10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations, but the impact on women with the gene mutation is more profound. Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation does not guarantee that the woman will develop any type of cancer, or imply that any cancer that appears was actually caused by the mutation, rather than some other factor.
Sir Michael Rudolf Stratton, is a British clinical scientist and the third director of the Wellcome Trust Sanger Institute. He currently heads the Cancer Genome Project and is a leader of the International Cancer Genome Consortium.
Sir Bruce Anthony John Ponder FMedSci FRS is an English geneticist and cancer researcher. He is Emeritus Professor of Oncology at the University of Cambridge and former director of the Cancer Research UK Cambridge Institute.
Sabera Nazneen Rahman is a geneticist who specialises in cancer research and is a non-executive director for Astra Zeneca. She was previously head of Genetics and Epidemiology at the Institute of Cancer Research.
A variant of uncertainsignificance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose connection to a human disease has not been established, and "insignificant mutation", referring to a gene variant that has no impact on the health or function of an organism. The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely. When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant". A "pharmacogenomic variant" has an effect only when an individual takes a particular drug and therefore is neither benign nor pathogenic.
Susan M. Domchek is an oncologist at the University of Pennsylvania, Executive Director of the Basser Center for BRCA, the Basser Professor in Oncology at the Perelman School of Medicine, and Director of the Mariann and Robert MacDonald Cancer Risk Evaluation Program at Penn Medicine. She has authored more than 250 articles in scholarly journals and serves on a number of editorial review boards. In 2018, Domchek was elected to the National Academy of Medicine.
Jórunn Erla Eyfjörð is an Icelandic molecular biologist and professor emerita at the Faculty of Medicine of the University of Iceland. She is known for her research on breast cancer genetics.
Montserrat García-Closas, M.D., M.P.H., Dr.P.H., is a Spanish researcher and academic who is best known for her works on identifying cancer biomarkers and genetic susceptibility to cancer. Dr. García-Closas serves as the deputy director of the Division of Cancer Epidemiology & Genetics (DCEG) of the National Cancer Institute, as well as the Acting Chief of the Integrative Tumor Epidemiology Branch of the DCEG.
Joni L. Rutter is an American biomedical scientist and the acting director of the National Center for Advancing Translational Sciences (NCATS). Rutter was previously director of the scientific programs in the All of Us initiative and served as the neuroscience and behavior division director at the National Institute on Drug Abuse. Her scientific experience includes clinical research in human genetics and environmental risk factors focusing on the fields of cancer and addiction.
Xiaohong Rose Yang is an American biomedical scientist researching the genetics of dysplastic nevus syndrome and chordoma, and etiologic heterogeneity of breast cancer. She is a senior investigator at the National Cancer Institute. Yang leads breast cancer studies in mainland China, Hong Kong, and Malaysia.