Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene that also expresses an associated trait. In medical genetics,the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that 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.
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.
BRCA2 and BRCA2 are a human gene and its protein product,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.
Women's College Hospital is a teaching hospital in downtown Toronto,Ontario,Canada. It is located at the north end of Hospital Row,a section of University Avenue where several major hospitals are located. It currently functions as an independent ambulatory care hospital. The Chief of Staff is Dr. Sheila Laredo and the physician-in-chief is Dr. Paula Harvey.
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.
Roxana Moslehi is an Iranian-born genetic epidemiologist.
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.
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.
Thomas M. Kolb,M.D.,is an American radiologist specializing in the detection and diagnosis of breast cancer in young,predominantly high-risk premenopausal women. He has served as an assistant clinical professor of Radiology at Columbia University College of Physicians and Surgeons from 1994–2010. Dr. Kolb is double board certified,having received his training in pediatrics at the Albert Einstein College of Medicine in Bronx,New York,and in diagnostic radiology at the Columbia-Presbyterian Medical Center in New York.
In the Family is a 2008 documentary film,produced by Kartemquin Films,about predicting breast and ovarian cancer and the choices women make when they are faced with the dangers of a possible life-threatening disease. The film's director,Joanna Rudnick,tests positive for the familial BRCA mutation that increases her chances of developing breast cancer by 60%. Faced with these odds,Rudnick must examine her choices of possibly taking her chances or possibly having her breasts and ovaries removed.
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.
A preventive mastectomy or prophylactic mastectomy or risk-reducing mastectomy (RRM) is an elective operation to remove the breasts so that the risk of breast cancer is reduced.
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. He is a Professorial Fellow of Homerton College,Cambridge.
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.
Helen Bell Milburn was a Canadian radiologist. She was on the staff of the Department of Radiology at Toronto’s Women's College Hospital from 1923 to 1954 and the Chairman of the hospital’s Breast Cancer Research Committee.
Lorraine L. Lipscombe is a Canadian endocrinologist. In 2021,Lipscombe was appointed the director of the University of Toronto's Novo Nordisk Network for Healthy Populations.
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.
