Concept
BRCA mutation
Related concepts (16)
CHEK2
CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers. The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1. Its location on chromosome 22 stretches from base pair 28,687,742 to base pair 28,741,904. The CHEK2 protein encoded by the CHEK2 gene is a serine threonine kinase.
Cancer screening
Cancer screening aims to detect cancer before symptoms appear. This may involve blood tests, urine tests, DNA tests, other tests, or medical imaging. The benefits of screening in terms of cancer prevention, early detection and subsequent treatment must be weighed against any harms. Universal screening, also known as mass screening or population screening, involves screening everyone, usually within a specific age group. Selective screening identifies people who are known to be at higher risk of developing cancer, such as people with a family history of cancer.
Prophylactic surgery
Prophylactic surgery (also known as preventive surgery or risk-reducing surgery), is a form of surgery whose purpose is to minimize or prevent the risk of developing cancer in an organ or gland that has yet to develop cancer and is known to be at high risk of developing cancer. This form of preventive healthcare may include surgeries such as mastectomies, oophorectomies, colectomies and surgical corrections, such as the surgical correction of cryptorchidism or undescended testis.
Hormonal therapy (oncology)
Hormonal therapy in oncology is hormone therapy for cancer and is one of the major modalities of medical oncology (pharmacotherapy for cancer), others being cytotoxic chemotherapy and targeted therapy (biotherapeutics). It involves the manipulation of the endocrine system through exogenous or external administration of specific hormones, particularly steroid hormones, or drugs which inhibit the production or activity of such hormones (hormone antagonists).
Acute myeloid leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cell production. Symptoms may include feeling tired, shortness of breath, easy bruising and bleeding, and increased risk of infection. Occasionally, spread may occur to the brain, skin, or gums. As an acute leukemia, AML progresses rapidly, and is typically fatal within weeks or months if left untreated.
Fanconi anemia
Fanconi anaemia (FA) is a rare, AR, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), MDS, and liver tumors. 90% develop aplastic anemia (the inability to produce blood cells) by age 40.
Oophorectomy
Oophorectomy (ˌoʊ.əfəˈrɛktəmi; from Greek ᾠοφόρος, ōophóros, 'egg-bearing' and ἐκτομή, ektomḗ, 'a cutting out of'), 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.
Genetic testing
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.
Tubal ligation
Tubal ligation (commonly known as having one's "tubes tied") is a surgical procedure for female sterilization in which the fallopian tubes are permanently blocked, clipped or removed. This prevents the fertilization of eggs by sperm and thus the implantation of a fertilized egg. Tubal ligation is considered a permanent method of sterilization and birth control. Female sterilization through tubal ligation is primarily used to permanently prevent a patient from having a spontaneous pregnancy (as opposed to pregnancy via in vitro fertilization) in the future.
Ovarian cancer
Ovarian cancer is a cancerous tumor of an ovary. It may originate from the ovary itself or more commonly from communicating nearby structures such as fallopian tubes or the inner lining of the abdomen. The ovary is made up of three different cell types including epithelial cells, germ cells, and stromal cells. When these cells become abnormal, they have the ability to divide and form tumors. These cells can also invade or spread to other parts of the body. When this process begins, there may be no or only vague symptoms.