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. [1] [2] She has authored more than 250 articles in scholarly journals. In 2018, Domchek was elected to the National Academy of Medicine.
In 2011, she led the organization of the international team of physician scientists known as BRCA-TAC, which led a charge to advance clinical testing of olaparib in cancer patients with known inherited mutations in BRCA1 and BRCA2. [3] [1] Cancers that are associated with BRCA1 and BRCA2 include breast cancer in men and women, ovarian cancer, melanoma, prostate and pancreatic cancer. [4]
In 2012, Domchek was named Executive Director of the Basser Center for BRCA at Penn Medicine's Abramson Cancer Center. [5] In 2015, Domchek was awarded the William Osler Patient Oriented Research Award for her clinical research in breast cancer genetics. [6] In 2018, Domchek was elected to the National Academy of Medicine [7] and was honored with the 2018 Spirit of Empowerment by the non-profit organization Facing Our Risk of Cancer Empowered. [3]
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 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.
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.
Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the PALB2 gene.
Olaparib, sold under the brand name Lynparza, is a medication for the maintenance treatment of BRCA-mutated advanced ovarian cancer in adults. It is a PARP inhibitor, inhibiting poly ADP ribose polymerase (PARP), an enzyme involved in DNA repair. It acts against cancers in people with hereditary BRCA1 or BRCA2 mutations, which include some ovarian, breast, and prostate cancers.
PARP inhibitors are a group of pharmacological inhibitors of the enzyme poly ADP ribose polymerase (PARP).
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.
Thomas M. Kolb 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. 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.
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.
Kenneth Offit is an American cancer geneticist and oncologist known for his discoveries with respect to the genetic bases of breast, colorectal, and lymphoid cancers. He is currently Chief of the Clinical Genetics Service and the Robert and Kate Niehaus Chair in Inherited Cancer Genomics at Memorial Sloan Kettering Cancer Center. Offit is also a member of the Program in Cancer Biology and Genetics at the Sloan-Kettering Institute and Professor of Medicine and Healthcare Policy and Research at Weill Cornell Medical College. He was previously a member of both the Board of Scientific Counselors of the National Cancer Institute and the Evaluation of Genomic Applications in Practice and Prevention working group of the U.S. Centers for Disease Control.
Ashok Venkitaraman is a British cancer researcher of Indian origin. He is the Director of the Cancer Science Institute of Singapore, a Distinguished Professor of Medicine at the National University of Singapore, and Program Director at A*STAR, Singapore. From 1998 to 2020, he was the inaugural holder of the Ursula Zoellner Professorship of Cancer Research at the University of Cambridge, a Professorial Fellow at Pembroke College, Cambridge, and from 2006 to 2019, was the Director of the Medical Research Council Cancer Unit.
Alejandra Campoverdi is an American women’s health advocate, best-selling author, and former White House aide. Under President Barack Obama, Campoverdi was the first White House Deputy Director of Hispanic Media.
HRDetect is a whole-genome sequencing (WGS)-based classifier designed to predict BRCA1 and BRCA2 deficiency based on six mutational signatures. Additionally, the classifier is able to identify similarities in mutational profiles of tumors to that of tumors with BRCA1 and BRCA2 defects, also known as BRCAness. This classifier can be applied to assess the implementation of PARP inhibitors in patients with BRCA1/BRCA2 deficiency. The final output is a probability of BRCA1/2 mutation.
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.
Allison Walsh Kurian is an American medical oncologist. She is a Professor of Medicine and Epidemiology & Population Health at Stanford University and an oncologist at the Stanford Cancer Institute.
Lori Jo Pierce is an American radiation oncologist and 57th President of the American Society of Clinical Oncology. She is a Full Professor and Vice Provost for Academic and Faculty Affairs at the University of Michigan. Her research focuses on the use of radiotherapy in the multi-modality treatment of breast cancer, with emphasis on intensity modulated radiotherapy in node positive breast cancer, the use of radiosensitizing agents, and the outcomes of women treated with radiation for breast cancer who are carriers of a BRCA1/2 breast cancer susceptibility gene.
Kelly A. Metcalfe is a Canadian scientist and a professor at the University of Toronto and at Women's College Hospital. Her work's focus is on understanding the clinical and psychosocial implications of genetic testing for BRCA gene mutations in women, men and their families.
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.
The SEE-FIM protocol is a pathology dissection protocol for Sectioning and Extensively Examining the Fimbria (SEE-FIM). This protocol is intended to provide for the optimal microscopic examination of the distal fallopian tube (fimbria) to identify either cancerous or precancerous conditions in this organ.