PMS2 - Mutations


PMS2 is a gene that encodes for DNA repair proteins involved in mismatch repair. The PMS2 gene is located on chromosome 7p22 and it consists of 15 exons. Exon 11 of the PMS2 gene has a coding repeat of eight adenosines.

Heterozygous germline mutations in DNA mismatch repair genes like PMS2 lead to autosomal dominant Lynch syndrome. Only 2% of families that have Lynch syndrome have mutations in the PMS2 gene. The age of patients when they first presented with PMS2-associated Lynch syndrome varies greatly, with a reported range of 23 to 77 years.

In rare cases, a homozygous defect may cause this syndrome. In such cases a child inherits the gene mutation from both parents and the condition is called Turcot syndrome or Constitutional MMR Deficiency (CMMR-D). Up until 2011, 36 patients with brain tumors due to biallelic PMS2 germline mutations have been reported. Inheritance of Turcot syndrome can be dominant or recessive. Recessive inheritance of Turcot syndrome is caused by compound heterozygous mutations in PMS2. 31 out of 57 families reported with CMMR-D have germline PMS2 mutations. 19 out of 60 PMS2 homozygous or compound heterozygous mutation carriers had gastrointestinal cancer or adenomas as the first manifestation of CMMR-D. Presence of pseudogenes can cause confusion when identifying mutations in PMS2, leading to false positive conclusions of the presence of mutated PMS2.

Read more about this topic:  PMS2

Other articles related to "mutations, mutation":

CDKL5 - Mutations
... At least 10 mutations in the CDKL5 gene have been identified in girls with an atypical form of Rett syndrome known as the early-onset seizure variant ... Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function ... Other mutations lead to the production of an abnormally short, nonfunctional version of the protein ...
Somatic Evolution In Cancer - Somatic Evolution in Therapeutic Resistance - Resistance To BCR-ABL Targeting Drugs
... in chronic myeloid leukemia, resistance often develops through a mutation that changes the shape of the binding site of the drug ... Sequential application of drugs can lead to the sequential evolution of resistance mutations to each drug in turn ... control gastrointestinal stromal tumors (GISTs) that are driven by mutations in c-KIT ...
Trinucleotide Repeat Disorders - Genetics - Why Three Nucleotides?
... repeats that are not multiples of three could cause frameshift mutations ... If the frameshift mutations altered the expression of developmentally obligatory pathways, then non-trinucleotide repeats may be masked by developmental lethality ... Mutations of 3 base pairs, on the other hand, do not cause a catastrophic frameshift mutation, and unless a stop codon (TAG, TAA, TGA) is the triplet that is added to the gene - which ...
Synthetic Lethality
... Synthetic lethality arises when a combination of mutations in two or more genes leads to cell death, whereas a mutation in only one of these genes does not, and by itself is said to be viable In a ... changes and random events such as mutations ... Since synthetic lethal mutations are inherently inviable, common approaches are to employ temperature sensitive mutations or put mutations under the control of a ...
Sequenom - MassARRAY Analyzer 4
3 – "core" set interrogates ~450 mutations in 35 genes ... An "extended" set interrogates ~700 mutations in 113 genes ... identifies 396 unique "druggable" or "actionable" mutations in 33 cancer genes ...