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Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Tests
This test measures the amount of methylmalonic acid (MMA) in your blood or urine. MMA is a substance made in small amounts when you digest protein. MMA is needed for metabolism, which is the process that your body uses to change food into energy.
Glossary Term
Genomic instability associated with the presence of hypermutability in specific genetic marker regions resulting from defective DNA mismatch repair.
Tests
An MTHFR gene test checks a sample of your blood for two very common changes in a gene called MTHFR . Changes in your genes are also called gene variants or mutations.
Glossary Term
Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.
Article
Research record from Nat Genet, 2026-07-24. PMID 42498778.
Article
Research record from Hum Mutat, 2026-10-16. PMID 42891061.
Article
Research record from Mol Carcinog, 2026-04-21. PMID 42013288.
Tests
PCR (polymerase chain reaction) tests are a reliable and accurate way to diagnose certain infectious diseases , some types of cancer , and certain genetic changes. The tests check for small amounts of genetic material of a pathogen (disease-causing organism) or abnormal cells in a sample of your blood, saliva, mucus, or tissue. The genetic material could be:
Tests
A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN . Changes in your genes are also called gene variants or mutations.
Glossary Term
One of the three possible ways of reading a nucleotide sequence. As the genetic code is read in nonoverlapping triplets (codons) there are three possible ways of translating a sequence of nucleotides into a protein, each with a different starting point.
Article
Research record from Ecancermedicalscience, 2026-05-27. PMID 42428814.
