Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in the breast,a change in breast shape,dimpling of the skin,milk rejection,fluid coming from the nipple,a newly inverted nipple,or a red or scaly patch of skin. In those with distant spread of the disease,there may be bone pain,swollen lymph nodes,shortness of breath,or yellow skin.
Oophorectomy,historically also called ovariotomy is the surgical removal of an ovary or ovaries. The surgery is also called ovariectomy,but this term is mostly used in reference to animals,e.g. the surgical removal of ovaries from laboratory animals. Removal of the ovaries of females is the biological equivalent of castration of males;the term castration is only occasionally used in the medical literature to refer to oophorectomy of women. In veterinary medicine,the removal of ovaries and uterus is called ovariohysterectomy (spaying) and is a form of sterilization.
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.
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.
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. 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,Professor of Medicine and Healthcare Policy and Research at Weill Cornell Medical College,and 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.
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.
High-grade serous carcinoma (HGSC) is a type of tumour that arises from the serous epithelial layer in the abdominopelvic cavity and is mainly found in the ovary. HGSCs make up the majority of ovarian cancer cases and have the lowest survival rates. HGSC is distinct from low-grade serous carcinoma (LGSC) which arises from ovarian tissue,is less aggressive and is present in stage I ovarian cancer where tumours are localised to the ovary.
Prophylactic salpingectomy is a preventative surgical technique performed on patients who are at higher risk of having ovarian cancer,such as individuals who may have pathogenic variants of the BRCA1 or BRCA2 gene. Originally salpingectomy was used in cases of ectopic pregnancies. As a preventative surgery however,it involves the removal of the fallopian tubes. By not removing the ovaries this procedure is advantageous to individuals who are still of child bearing age. It also reduces risks such as cardiovascular disease and osteoporosis which are associated with removal of the ovaries.
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.
Rosalind Anne Eeles is a Professor of Oncogenetics at the Institute of Cancer Research and clinician at the Royal Marsden NHS Foundation Trust. She is a leader in the field of genetic susceptibility to prostate cancer,and is known for the discovery of 14 genetic variants involved in prostate cancer predisposition. According to ResearchGate,Eeles has published more than 500 articles in peer-reviewed journals,with over 34,000 citations and an h-index of 92. Eeles was elected a Fellow of the Academy of Medical Science in 2012. She was awarded a National Institute for Health Research Senior Investigator Emeritus in 2014.
Jung-Min Lee is a South Korean-American medical oncologist and physician-scientist focused on the early clinical drug development and translational studies of targeted agents in BRCA mutation-associated breast or ovarian cancer,high-grade epithelial ovarian cancer,and triple-negative breast cancer. She is a NIH Lasker Clinical Research Scholar and principal investigator in the Women's Malignancies Branch at the National 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.
Beth Young Karlan is an American gynecologic oncologist. In 2008,she was named editor-in-chief of the medical journals Gynecologic Oncology and Gynecologic Oncology Reports. In 2012,Karlan was appointed by the White House to serve on the National Cancer Advisory Board,and in 2015,she was elected to the National Academy of Medicine.
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.
