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PALB2
Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the ''PALB2'' gene. Function This gene encodes a protein that functions in genome maintenance (DNA repair#Double-strand breaks, double strand break repair). This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. PALB2 binds the single strand DNA and directly interacts with the recombinase RAD51 to stimulate strand invasion, a vital step of homologous recombination, PALB2 can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand invasion. Clinical significance Variants in the ''PALB2'' gene are associated with an increased risk of developing breast cancer of magnitude similar to that associated with BRCA2 mutations and ''PALB2''-deficient cells are sensitive to PARP inhibitors. ''PALB2'' ...
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BRCA2
''BRCA2'' and BRCA2 () are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associated) are gene nomenclature, maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC proteins, FANC protein complex. Orthologs, styled ''Brca2'' and Brca2, are common in other vertebrate species. May 2021 ''BRCA2'' is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA. ''BRCA2'' and ''BRCA1'' are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosome, chromosomal damage with an important role in th ...
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Fanconi Anemia
Fanconi anemia (FA) is a rare, autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homolog ...
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PARP Inhibitors
PARP inhibitors are a class of drugs that are a group of pharmacological inhibitors of the enzyme poly ADP ribose polymerase (PARP), which plays a role in repairing DNA in damaged cells. Medical uses of these drugs include the treatment of heritable cancers. Several forms of cancer are more dependent on PARP than regular cells, making PARP (PARP1, PARP2 etc.) an attractive target for cancer therapy. PARP inhibitors appear to improve progression-free survival in women with recurrent platinum-sensitive ovarian cancer, as evidenced mainly by olaparib added to conventional treatment. In addition to their use in cancer therapy, PARP inhibitors are considered a potential treatment for acute life-threatening diseases, such as stroke and myocardial infarction, as well as for long-term neurodegenerative diseases. Medical uses Approved for marketing * Olaparib: In December, 2014, the EMA and US FDA approved olaparib as monotherapy (at 400 mg taken twice per day) for patients ...
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Pancreatic Cancer
Pancreatic cancer arises when cell (biology), cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a Neoplasm, mass. These cancerous cells have the malignant, ability to invade other parts of the body. A number of types of pancreatic cancer are known. The most common, pancreatic adenocarcinoma, accounts for about 90% of cases, and the term "pancreatic cancer" is sometimes used to refer only to that type. These adenocarcinomas start within the part of the pancreas that makes digestive enzymes. Several other types of cancer, which collectively represent the majority of the non-adenocarcinomas, can also arise from these cells. About 1–2% of cases of pancreatic cancer are neuroendocrine tumors, which arise from the hormone-producing neuroendocrine cell, cells of the pancreas. These are generally less aggressive than pancreatic adenocarcinoma. Signs and symptoms of the most-common form of pancreatic cancer may include jaundice, ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ...
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Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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PALB2 En
Larsen Bay Airport is a state-owned public-use airport located in Larsen Bay, a city in the Kodiak Island Borough of the U.S. state of Alaska. As per Federal Aviation Administration records, the airport had 2,336 passenger enplanements in calendar year 2021. It is included in the National Plan of Integrated Airport Systems for 2011–2015, which categorized it as a ''general aviation airport'' (A public airport that does not have scheduled service or has scheduled service with less than 2,500 passenger boardings each year). Facilities and aircraft Larsen Bay Airport resides at elevation of 87 feet (27 m) above mean sea level. It has one runway designated 4/22 with a gravel surface measuring 2,690 by 75 feet (820 x 23 m). For the 12-month period ending December 31, 2021, the airport had 3,730 aircraft operations, an average of 10 per day: 52% air taxi and 48% general aviation. Airport Operations Source: Runway Information Source: Runway 4/22 Airline and destina ...
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Homologous Recombinational Repair Of DNA Double-strand Damage
Homology, homologous, homologation or homological may refer to: Sciences Biology *Homology (biology), any characteristic of biological organisms that is derived from a common ancestor *Sequence homology, biological homology between DNA, RNA, or protein sequences *Homologous chromosomes, chromosomes in a biological cell that pair up (synapse) during meiosis *Homologous recombination, genetic recombination in which nucleotide sequences are exchanged between molecules of DNA * Homologous desensitization, a receptor decreases its response to a signalling molecule when that agonist is in high concentration *Homology modeling, a method of protein structure prediction Chemistry *Homologous series, a series of organic compounds having different quantities of a repeated unit * Homologous temperature, the temperature of a material as a fraction of its absolute melting point *Homologation reaction, a chemical reaction which produces the next logical member of a homologous series O ...
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DNA Repair
DNA repair is a collection of processes by which a cell (biology), cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is constantly modified in Cell (biology), cells, by internal metabolism, metabolic by-products, and by external ionizing radiation, ultraviolet light, and medicines, resulting in spontaneous DNA damage involving tens of thousands of individual molecular lesions per cell per day. DNA modifications can also be programmed. Molecular lesions can cause structural damage to the DNA molecule, and can alter or eliminate the cell's ability for Transcription (biology), transcription and gene expression. Other lesions may induce potentially harmful mutations in the cell's genome, which affect the survival of its daughter cells following mitosis. Consequently, DNA repair as part of the DNA damage response (DDR) is constantly active. When normal repair proce ...
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Homologous Recombination
Homologous recombination is a type of genetic recombination in which genetic information is exchanged between two similar or identical molecules of double-stranded or single-stranded nucleic acids (usually DNA as in Cell (biology), cellular organisms but may be also RNA in viruses). Homologous recombination is widely used by cells to accurately DNA repair, repair harmful DNA breaks that occur on both strands of DNA, known as double-strand breaks (DSB), in a process called homologous recombinational repair (HRR). Homologous recombination also produces new combinations of DNA sequences during meiosis, the process by which eukaryotes make gamete cells, like sperm and ovum, egg cells in animals. These new combinations of DNA represent genetic variation in offspring, which in turn enables populations to Adaptation, adapt during the course of evolution. Homologous recombination is also used in horizontal gene transfer to exchange genetic material between different strains and species ...
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Radical Mastectomy
Radical mastectomy is a surgical procedure that treats breast cancer by removing the breast and its underlying chest muscle (including pectoralis major and pectoralis minor), and lymph nodes of the axilla (armpit). Breast cancer is the most common cancer among women. In the early twentieth century, it was primarily treated by surgery, which is when the mastectomy was developed. However, with the advancement of technology and surgical skills in recent years, mastectomies have become less invasive. , a combination of radiotherapy and breast-conserving mastectomy are considered optimal treatment. Radical mastectomy Halsted and Meyer were the first to achieve successful results with the radical mastectomy, thus ushering in the modern era of surgical treatment for breast cancer. In 1894, William Halsted published his work with radical mastectomy from the 50 cases operated at Johns Hopkins between 1889 and 1894. Willy Meyer also published research on radical mastectomy from his ...
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Meiosis
Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one copy of each chromosome (haploid). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over, creating new combinations of code on each chromosome. Later on, during fertilisation, the haploid cells produced by meiosis from a male and a female will fuse to create a zygote, a cell with two copies of each chromosome. Errors in meiosis resulting in aneuploidy (an abnormal number of chromosomes) are the leading known cause of miscarriage and the most frequent genetic cause of developmental disabilities. In meiosis, DNA replication is followed by two rounds of cell division to produce four daughter cells, each with half the number of chromosomes as the original parent cell. ...
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