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Type of mutation on somatic cell
A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation
Somatic_mutation
Cellular mechanism in B cells
organism. Somatic hypermutation involves a programmed process of mutation affecting the variable regions of immunoglobulin genes. Unlike germline mutation, SHM
Somatic_hypermutation
Biological term for all non-reproductive bodily cells
to its offspring through the germline. Most cancers are due to somatic mutations. Somatic is also defined as relating to the wall of the body cavity, particularly
Somatic_(biology)
Genetic mutation not inherited from a parent
A de novo mutation is a newly present mutation in an individual organism. These may occur in gametogenesis due to a germline mutation in a parent, or
De_novo_mutation
Study of the evolutionary development of ageing processes
germline age-related mutated alleles is known as mutation accumulation. Note that somatic mutations are not heritable, they are only a source of developmental
Evolution_of_ageing
Accumulation of mutations
Somatic evolution is the accumulation of mutations and epimutations in somatic cells (the cells of a body, as opposed to germ plasm and stem cells) during
Somatic_evolution_in_cancer
Alteration in the nucleotide sequence of a genome
rise to a mutation, the mutation cannot be repaired. On the other hand, a mutation may occur in a somatic cell of an organism. Such mutations will be present
Mutation
Possession of multiple genetic lineages within a multi-cellular organism
first or later cleavages. Somatic mutation leading to mosaicism is prevalent in the beginning and end stages of human life. Somatic mosaics are common in
Mosaic_(genetics)
Proposed explanation for immunoglobulin diversity
from parents to offspring. The competing somatic mutation theory proposed that diversity arose through mutations in a smaller number of inherited antibody
Germ_line_theory
Many somatic mutations were interpreted as splicing mutations since alternative splicing was affected. The frequency of GT198 somatic mutations in cancer
PSMC3_interacting_protein
Auto-inflammatory syndrome
adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name VEXAS
VEXAS_syndrome
Largest known organism
the age could be between 16,000 and 80,000 years based on the first somatic mutation model of the tree, but, that research did not pass peer review, while
Pando_(tree)
Inherited genetic variation
this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation. Germline mutation is distinct
Germline_mutation
of somatic mutations (acquired mutations). It has been demonstrated through research that long lived plants can have higher per generation mutation rate
Autogamy_depression
Genotoxic assay in fruit fly
The somatic mutation and recombination tests (SMARTs) are in vivo genotoxicity tests performed in Drosophila melanogaster (Fruit fly). These fruit fly
Somatic mutation and recombination tests
Somatic_mutation_and_recombination_tests
Protein-coding gene in humans
Pappo A, Easton J, Dalton J, Hedlund E, et al. (April 2014). "Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma"
ATRX
Human somatic variations are somatic mutations (mutations that occur in somatic cells) both at early stages of development and in adult cells. These variations
Human_somatic_variation
Formation of cancer
to the prevailing accepted theory of carcinogenesis, the somatic mutation theory, mutations in DNA and epimutations that lead to cancer disrupt these
Carcinogenesis
Genetics behind dog coat
syndrome. Somatic mutation, a mutation that can occur in body cells after formation of the embryo, can be passed on to next generations. A pigment somatic mutation
Dog_coat_genetics
Distinction between germ cell lineages producing gametes and somatic cells
to somatic cells. This means that new information from somatic mutation is not passed on to the germline. This barrier concept implies that somatic mutations
Weismann_barrier
Rare type of blood cancer
mutated cells in the bone marrow. This is most often associated with a somatic mutation in the JAK2, CALR, or MPL genes. In PMF, the bony aspects of bone marrow
Primary_myelofibrosis
Any biological cell forming the body of an organism
types of somatic cells in the human body. Theoretically, these cells are not germ cells (the source of gametes); they transmit their mutations, to their
Somatic_cell
Overproduction of blood cells in the bone marrow
uncontrolled. The overproduction of blood cells is often associated with a somatic mutation, for example in the JAK2, CALR, TET2, and MPL gene markers. In rare
Myeloproliferative_neoplasm
Hypothesis that aging is caused by accumulated DNA damage
related theory is that mutation, as distinct from DNA damage, is the primary cause of aging. A comparison of somatic mutation rate across several mammal
DNA_damage_theory_of_aging
mutational signatures in cancer provides insight into the biological mechanisms involved in carcinogenesis and normal somatic mutagenesis. Mutational
Mutational_signatures
Protein-coding gene in the species Homo sapiens
mutation increased somatic mutation rate in blood cells among carriers. Mutation of MBD4 occurs in about 4% of colorectal cancers. MBD4 mutations also occur in
MBD4
Disease involving heart or blood vessels
stroke. As of 2017, evidence suggests that certain leukemia-associated mutations in blood cells may also lead to increased risk of cardiovascular disease
Cardiovascular_disease
Mutation that shifts codon alignment
diseases caused by or associated with a gene having a somatic mutation giving rise to a frameshift mutation. The methods include providing a tissue or fluid
Frameshift_mutation
Silent mutation SINE Single-gene disorder Sister chromatids Skew Smooth endoplasmic reticulum SNP SnRNP Sociobiology Somatic cell Somatic cells Somatic mutation
Index_of_genetics_articles
Expansion of blood cells
one or more somatic mutations that give it a competitive advantage in hematopoiesis over the stem/progenitor cells without these mutations. Alternatively
Clonal_hematopoiesis
Presence of an abnormal number of chromosomes in a cell
presence of an abnormal number of chromosomes in a cell, for example a human somatic cell having 45 or 47 chromosomes instead of the usual 46. It does not include
Aneuploidy
Protein-coding gene in the species Homo sapiens
function both as a tumor suppressor and as a metastasis suppressor. BAP1 somatic mutations were identified in a small number of breast and lung cancer cell lines
BAP1
Tumor or other abnormal growth of tissue
increased DNA damages (level 5 in the figure) which result in increased somatic mutations and epigenetic alterations (level 6 in the figure). Field defects
Neoplasm
Mutation acquired during an organism's lifespan
the trisomic cells. Somatic mutations are the result of a change in the genetic structure after fertilization. This type of mutation also involves cells
Postzygotic_mutation
Mammalian protein found in Homo sapiens
damage. Mutations in the ATM gene are found at relatively low frequencies in sporadic cancers. According to COSMIC, the Catalogue Of Somatic Mutations In Cancer
ATM_serine/threonine_kinase
Vascular anomaly
newborns. Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the GNAQ gene. An association with RASA1 has also been
Port-wine_stain
Overproduction of red blood cells by the bone marrow
Nordestgaard, B. G.; Kofoed, K. F.; Birgens, H. S. (2014). "JAK2V617F somatic mutation in the general population: Myeloproliferative neoplasm development
Polycythemia_vera
Tumor of the adrenal medulla which secretes adrenal hormones
inherited germline susceptibility mutation. Of the remaining 60% of tumors, more than 30% are associated with a somatic mutation. Given the high association
Pheochromocytoma
Rare disease of abnormal tissue growth
syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene. In PROS diseases individual malformations are seen
PIK3CA-related overgrowth spectrum
PIK3CA-related_overgrowth_spectrum
Suite of free genome analysis software by Nvidia
workflows for DNA and RNA analyses and the detection of germline and somatic mutations, using open-source tools. It is designed to improve the computing
Nvidia_Parabricks
Online biology database
COSMIC is an online database of somatically acquired mutations found in human cancer. Somatic mutations are those that occur in non-germline cells that
COSMIC_cancer_database
Project to catalogue genetic mutations responsible for cancer
belong to the proneural subgroup and were tightly associated with IDH1 somatic mutations. TCGA reported on mRNA expression, microRNA expression, promoter methylation
The_Cancer_Genome_Atlas
and somatic mutation research based at the Wellcome Trust Sanger Institute in the United Kingdom. It aims to identify sequence variants/mutations critical
Cancer_Genome_Project
Science of genes, heredity and variation
the tumor and are not transmitted to the progeny (somatic mutations). The most frequent mutations are a loss of function of p53 protein, a tumor suppressor
Genetics
Type of blood cancer
associated mutations, based on whole-genome sequencing of 30 patients, are a somatic mutation in MYD88 (90% of patients) and a somatic mutation in CXCR4
Waldenström_macroglobulinemia
Mammalian protein found in humans
and chromosomal location of human genes inducible by type I interferon". Somatic Cell and Molecular Genetics. 14 (5): 415–426. doi:10.1007/BF01534709. PMID 3175763
ADAR
Medical condition
predominance and most frequently affects the lower limbs. ILVEN is caused by somatic mutations during the embryonic stage that results in visible genetic mosaicism
Inflammatory linear verrucous epidermal nevus
Inflammatory_linear_verrucous_epidermal_nevus
Type of germ cell tumor
neuroectodermal histopathology. Immature teratoma has one of the lowest rates of somatic mutation of any tumor type and results from one of five mechanisms of meiotic
Teratoma
Autoimmune disease of skin and muscle
malignancies, in which tumors harbor genetic alterations, including somatic mutations, in genes encoding the specific autoantigens targeted by the patient's
Dermatomyositis
Excess growth of certain parts of the body
adenomas and diffuse somatomammotroph hyperplasia may result from somatic mutations activating GNAS, which may be acquired or associated with McCune–Albright
Acromegaly
Cancer of the colon or rectum
neoplastic foci in vitro. Yet there is evidence that more than 80% of the somatic mutations found in mutator phenotype human colorectal tumors occur before the
Colorectal_cancer
Medical condition
gastric cancer, accounts for only 1–3% of gastric adenocarcinomas. Somatic mutations in this gene are found in about 50% of diffuse-type gastric carcinomas
Linitis_plastica
File format for genomic variation data
samples with data SB strand bias at this position SOMATIC indicates that the record is a somatic mutation, for cancer genomics VALIDATED validated by follow-up
Variant_Call_Format
Cancer originating in or on the ovary
hypercalcemia. Recent research has found an inactivating germline and somatic mutation of SMARCA4 gene. The hypercalcemic subtype is very aggressive and has
Ovarian_cancer
Spreading of a disease inside a body
likely not sample from the subpopulation with metastatic potential. The somatic mutation theory of metastasis development has not been substantiated in human
Metastasis
Change in the heritable traits of populations
genetic characteristics and in the numbers of their surviving offspring. Mutation introduces new genetic variation, and processes such as genetic drift,
Evolution
Malignancy that develops from epithelial cells
(causing a very high mutation rate), likely give rise to the high frequency of total genome mutations seen in carcinomas. In somatic cells, deficiencies
Carcinoma
Sequencing all the DNA of an individual at once
(January 2012). "The large-scale distribution of somatic mutations in cancer genomes". Human Mutation. 33 (1): 136–143. doi:10.1002/humu.21616. PMID 21953857
Whole_genome_sequencing
Protein found in humans
proteins to stabilise the complex and thus facilitate nucleotide exchange. A mutation in the DOCK8 gene is associated with the autosomal recessive form of Job's
Dedicator of cytokinesis protein 8
Dedicator_of_cytokinesis_protein_8
Rare genetic disorder
mutations and somatic mutations. Constitutional mutations are the first inactivation events that are often small mutations, such as point mutations and
Schwannomatosis
Gene editing method
treatment of inherited genetic diseases as well as diseases arising from somatic mutations, such as cancer. However, its use in human germline genetic modification
CRISPR_gene_editing
Abnormal number or structure of chromosomes
these mutations may be present in somatic cells, germ cells, or both, in the case of gonosomal mosaicism, where mutations exist in both somatic and germline
Chromosome_abnormality
sequencing can be useful for detection of germline mutations, but may be less successful in detecting somatic minor alleles at low frequencies (mosaicism).
Surveyor_nuclease_assay
Sub-field of genomics
fact that most cancer mutations represent somatic events, allow the identification of cancer-specific mutations. Cancer mutations are cumulative and sometimes
Oncogenomics
Diverse collection of blood-related cancers
IPSS-M incorporates 31 somatic genes into its risk stratification model. IPSS-M determined that multihit TP53 mutations, FLT3 mutations, and partial tandem
Myelodysplastic_syndrome
Medical diagnostic method
categories based on hematologic parameters, cytogenetic abnormalities, and somatic mutations of 31 genes. The IPSS-M uses "prognostic indicators" to develop a
International Prognostic Scoring System
International_Prognostic_Scoring_System
American neurological researcher
His research focuses on genetics of human cortical development and somatic mutations contributions to human brain diseases. Walsh was a founding Board
Christopher_A._Walsh
Cellular mechanism
Deficiencies in DNA repair enzymes are occasionally caused by a newly arising somatic mutation in a DNA repair gene, but are much more frequently caused by epigenetic
DNA_repair
Protein found in humans
for MMR is found in approximately 15% of colorectal cancers, and somatic mutations in the MSH3 gene can be found in nearly 50% of MMR-deficient colorectal
MSH3
Medical condition
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
BRCA_mutation
American geneticist and pathologist (1923–2011)
"Hemoglobin and the genetic code: Evolution of Protection against Somatic Mutation". Journal of Molecular Evolution. 9 (3). Springer New York: 225–230
James_E._Bowman
Red wine grape variety
pinot color sport (and can arise by mutation of Pinot noir or Pinot blanc), presumably representing a somatic mutation in either the VvMYBA1 or VvMYBA2 genes
Pinot_noir
Deterioration of function with age
regulation (gene expression), codon restriction, error catastrophe, somatic mutation, accumulation of genetic material (DNA) damage (DNA damage theory of
Senescence
Phosphoglyceride attached to proteins
of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT". Blood. 122 (7): 1312–5. doi:10.1182/blood-2013-01-481499
Glycosylphosphatidylinositol
Family of genetic conditions caused by mutations affecting Ras genes
with RASopathies but are not considered true RASopathies if caused by somatic mutation. Generally, RASopathies increase the risk of developing cancers. Neurodevelopmental
RASopathy
Medical condition
visible, circumscribed, chronic lesions (nevi). BRBNS is caused by somatic mutations in the TEK (TIE2) gene. It was described by William Bennett Bean in
Blue rubber bleb nevus syndrome
Blue_rubber_bleb_nevus_syndrome
Excess production of aldosterone in the adrenal gland
people with an adrenal aldosterone producing adenoma have somatic gain-of-function mutations in a single gene (KCNJ5). This gene is mutated in inherited
Primary_aldosteronism
Frequency of mutation of genes
for the study of the somatic mutation rate and the mutagenic agents in vivo. Mutation Research, (705), 3-10.described mutation frequency as containing
Mutation_frequency
Genus of aquatic plants
Stephen O.; Netherland, Michael; Dayan, Franck E. (2004-10-01). "Somatic mutation-mediated evolution of herbicide resistance in the nonindigenous invasive
Elodea
Family of genetic disorders
approximately 1 in 20,000-50,000 live births and is caused by a somatic activating mutation in GNAQ. Normally, GNAQ is involved in cell growth signal transmission
Phakomatosis
Human protein-coding gene
The presence of [a] PIK3CA mutation may predict response to aspirin therapy for colorectal cancer. Somatic activating mutations in PIK3CA are found in Klippel–Trénaunay
P110α
Rare mutation of the common 3-leaf clover said to bring good luck
low frequency. Alternatively, four-leaf clovers could be caused by somatic mutation or a developmental error of environmental causes. They could also be
Four-leaf_clover
Cells of a multicellular organism that pass on genetic material to progeny
cells that are not in the germline are called somatic cells. According to this definition, mutations, recombinations and other genetic changes in the
Germline
British genomics research institute
current Programmes at the Sanger Institute are Cancer, Ageing and Somatic Mutation, Cellular Genetics, Human Genetics, Parasites and Microbes and Tree
Wellcome_Sanger_Institute
Occurrence in an interbreeding population of two or more discontinuous genotypes
to be clear when discussing mutations whether it is a somatic mutation or germline mutation. In the case of silent mutations, there is no change in fitness
Gene_polymorphism
Protein-coding gene in humans
pylori, and two of the 95 patients had biallelic mutation of the MUTYH gene. The somatic missense mutations for the first identified cancer occurred at codon
MUTYH
Protein-coding gene in the species Homo sapiens
an acquired hematologic disorder, has been shown to result from somatic mutations in this gene. Alternate splice variants have been characterized. Multiple
PIGA
Tumour-like overgrowth due to a systemic genetic condition
to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous
Hamartoma
Italian-born American systems biologist
Hilda; Califano, Andrea (August 2016). "Functional characterization of somatic mutations in cancer using network-based inference of protein activity". Nature
Andrea_Califano
All genetic material of an organism
exposure to environmental mutagens can result in mutations in somatic cells. In some cases, such mutations lead to cancer because they cause cells to divide
Genome
emulsion PCR and flow cytometry to identify and quantify specific somatic mutations present in DNA. BEAMing begins with the isolation of DNA from a patient’s
BEAMing
Protein
inherited from one parent in a familial case. The second hit is a MEN1 somatic mutation, oftentimes a large deletion occurring in the predisposed endocrine
MEN1
Person who turned 110 years old
expression) genes. Supercentenarians also had an unexpectedly low level of somatic mutations. Active ageing List of supercentenarians Superager Longevity escape
Supercentenarian
Genetics behind Labrador Retriever coat colour
Labrador with black pigment. The most probable cause was either a somatic mutation early in development or a fusion between two zygotes that left some
Labrador Retriever coat colour genetics
Labrador_Retriever_coat_colour_genetics
Genetic characteristic of tumorous tissue
mutational signatures provide critical information about cancer behaviour, they have different definitions. TMB is defined as the number of somatic mutations/megabase
Tumor_mutational_burden
Modified polymerase chain reaction protocol
wildtype and mutation-containing DNA. The ability to preferentially amplify and identify minority alleles and low-level somatic DNA mutations in the presence
COLD-PCR
Medical condition
(August 2014). "Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma". Nature Genetics. 46 (8): 877–80. doi:10.1038/ng
Fibroadenoma
Overproduction of platelets in the bone marrow
Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR (Dec 2013). "Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2". The New England
Essential_thrombocythemia
Medical condition
does not have a hereditary cause). It is caused by a mosaic, somatic activating mutation occurring in the GNAQ gene. Diagnosis is usually done through
Sturge–Weber_syndrome
Hypothesis explaining cancer
known as the Warburg effect. In the somatic mutation theory of cancer, malignant proliferation is caused by mutations and altered gene expression, in a
Warburg_hypothesis
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