BRCA2 and BRCA2 are human genes and their protein products, respectively. The official symbol and the official name are maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, are common in other vertebrate species. BRCA2 is a human tumor suppressor gene, found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA.
Memorial Sloan Kettering Cancer Center is a cancer treatment and research institution in Manhattan in New York City. It was founded in 1884 as the New York Cancer Hospital. MSKCC is one of 72 National Cancer Institute-designated Comprehensive Cancer Centers. It had already been renamed and relocated, to its present site, when the Sloan-Kettering Institute for Cancer Research was founded in 1945, and built adjacent to the hospital. The two medical entities formally coordinated their operations in 1960, and formally merged as a single entity in 1980. Its main campus is located at 1275 York Avenue between 67th and 68th Streets in Manhattan.
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 genetic testing and precision medicine 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 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.
Josep Baselga i Torres, known in Spanish as José Baselga, was a Spanish medical oncologist and researcher focused on the development of novel molecular targeted agents, with a special emphasis in breast cancer. Through his career he was associated with the Memorial Sloan Kettering Cancer Center, Vall d'Hebron Institute of Oncology, and the Massachusetts General Hospital in their hematology and oncology divisions. He led the development of the breast cancer treatment Herceptin, a monoclonal antibody, that targets the HER2 protein, which is impacted in aggressive breast cancers.
Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer, ovarian cancer and additional cancers in genetically related families. It accounts for 90% of the hereditary cancers. The hereditary factors may be proven or suspected to cause the pattern of breast and ovarian cancer occurrences in the family. The name HBOC may be misleading because it implies that this genetic susceptibility to cancer is mainly in women. In reality, both sexes have the same rates of gene mutations and HBOC can predispose to other cancers including prostate cancer and pancreatic cancer. For this reason, the term "King syndrome" has recently come into use. The new name references Mary-Claire King who identified the genes BRCA1 and BRCA2.
TOX high mobility group box family member 3, also known as TOX3, is a human gene.
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.
Joan Massagué, is a Spanish biologist and the current director of the Sloan Kettering Institute at Memorial Sloan Kettering Cancer Center. He is also an internationally recognized leader in the study of both cancer metastasis and growth factors that regulate cell behavior, as well as a professor at the Weill Cornell Graduate School of Medical Sciences.
Sir Bruce Anthony John Ponder FMedSci FAACR FRS FRCP 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 and of the Cancer Research UK Cambridge Cancer Centre.
Simon N. Powell is a British cancer researcher and radiation oncologist residing in New York City.
George Bosl is an American cancer researcher, holder of the Patrick M. Byrne Chair in Clinical Oncology at the Memorial Sloan-Kettering Cancer Center in New York City, and is a professor of medicine at the Weill Cornell Medical College. In 1997, he was appointed chair of the Department of Medicine at Sloan-Kettering, a position which he held until 2015. In 2019, he was named Memorial Sloan Kettering's first ombudsperson.
A hereditary cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors.
Henry Thompson Lynch was an American physician noted for his discovery of familial susceptibility to certain kinds of cancer and his research into genetic links to cancer.
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.
Nikola Panayot Pavletich is the former chair of structural biology at Memorial Sloan Kettering Cancer Center.
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.
Maria Jasin is a developmental biologist at the Memorial Sloan Kettering Cancer Center. She is known for studying homologous recombination, a method in which double-strand breaks in DNA strands are repaired, and for discovering the role of BRCA1 and BRCA2 in cancers.
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.
Breast and ovarian cancer does not necessarily imply that both cancers occur at the same time, but rather that getting one cancer would lead to the development of the other within a few years. Women with a history of breast cancer have a higher chance of developing ovarian cancer, vice versa.
