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Genetics & Oncology

Medical

Mesothelioma and other asbestos cancers are driven by changes in a tumor's genes. This category covers the molecular side of diagnosis: the mutations pathologists look for, what they say about how a tumor behaves, and why some are tested for at all.

A few genes come up again and again. BAP1 and CDKN2A are tumor suppressor genes, the brakes that normally hold cell growth in check, and their loss is common in mesothelioma. Terms like somatic mutation, homozygous deletion, and tumor mutational burden (TMB) describe the genetic damage itself, while molecular profiling and molecular testing are the lab methods that find it. Your pathology report may also use words like epithelioid, sarcomatoid, or well-differentiated to describe how the cells look under a microscope.

These details aren't academic. They can affect prognosis, guide treatment choices, and sometimes point to therapies that target a specific mutation. Understanding a marker like WT-1 or NF2 helps you read your own results.

Every term below links to a full plain-language definition.

Terms in this category

  • BAP1BAP1 (BRCA1-Associated Protein 1) is a tumor suppressor gene that helps cells repair DNA damage and control c…
  • BAP1 Tumor Predisposition SyndromeBAP1 tumor predisposition syndrome is an inherited condition in which a person carries a harmful change in on…
  • BRAF V600EBRAF V600E is a specific change in the BRAF gene where the amino acid valine is swapped for glutamic acid at …
  • CarcinogenicCapable of causing cancer in living tissue. A carcinogen is any agent (chemical, mineral fiber, virus, or for…
  • CDKN2ACDKN2A is a tumor suppressor gene that produces proteins (p16/INK4a and p14/ARF) which help control cell divi…
  • Clonal SelectionClonal selection is the process by which a single damaged cell, one that has gained a survival or growth adva…
  • Cumulative Mutational LoadCumulative mutational load is the total amount of genetic damage that builds up in a cell over time from repe…
  • EGFREGFR (Epidermal Growth Factor Receptor) is a protein found on the surface of many cells that receives signals…
  • G→T TransversionA G→T transversion is a specific type of DNA mutation in which a guanine (G) base is replaced by a thymine (T…
  • Genetic CounselingGenetic counseling is a consultation with a trained genetic counselor or medical geneticist who explains what…
  • Germline MutationA germline mutation is a gene change inherited from a parent, or present from conception, that is found in ev…
  • HER2HER2 (Human Epidermal growth factor Receptor 2) is a protein found on the surface of cells that signals them …
  • Homozygous DeletionA homozygous deletion is the loss of both copies of a specific gene or DNA region, one inherited from each pa…
  • KRAS G12CKRAS G12C is a specific mutation in the KRAS gene in which the building block glycine is swapped for cysteine…
  • MET exon 14 skippingMET exon 14 skipping is a mutation in the MET gene that causes a section of the gene (exon 14) to be left out…
  • Microsatellite Instability (MSI-H)Microsatellite instability is a pattern of DNA errors in which short, repeating sequences (microsatellites) b…
  • Mismatch Repair Deficiency (dMMR)Mismatch repair deficiency is a breakdown in the cellular system that proofreads DNA after it copies itself. …
  • Molecular ProfilingMolecular profiling is laboratory testing that examines the genes, proteins, and other molecules in a tumor t…
  • Mutational LegacyMutational legacy refers to the lasting pattern of genetic damage left in a person's cells by past exposures,…
  • NF2NF2 (Neurofibromin 2) is a gene that produces a protein called merlin, which acts as a tumor suppressor, mean…
  • NTRK FusionAn NTRK fusion is a rare genetic abnormality in which one of the NTRK genes (NTRK1, NTRK2, or NTRK3) becomes …
  • Overall SurvivalOverall survival, often shortened to OS, is the length of time from a chosen starting point, usually diagnosi…
  • p53p53 is a tumor suppressor gene (and the protein it codes for) that acts as a cellular safety check, halting t…
  • ROS1ROS1 is a gene that makes a protein called a receptor tyrosine kinase, which helps control how cells grow and…
  • SarcomatoidSarcomatoid is a histologic subtype of mesothelioma in which the tumor cells are long and spindle-shaped, res…
  • Somatic MutationA somatic mutation is a change in the DNA of a body cell that happens during a person's lifetime, rather than…
  • SV40Simian Virus 40 (SV40) is a polyomavirus originally found in monkeys that contaminated some early polio vacci…
  • Tumor BurdenTumor burden is the total amount of cancer in a person's body at a given point in time. It reflects the size,…
  • Tumor Mutational Burden (TMB)Tumor Mutational Burden is a measurement of how many genetic mutations are present in the DNA of a cancer's c…
  • Tumor Suppressor GeneA tumor suppressor gene is a normal gene that helps protect cells from becoming cancerous by controlling cell…
  • Well-Differentiated"Well-differentiated" describes cancer cells that, when viewed under a microscope, still look and behave a lo…
  • Wilms Tumor 1 (WT-1)WT-1 is a gene that produces a protein involved in normal cell growth and development. In mesothelioma diagno…

Terms in this category

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