Results 1 -
6
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6
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"SCHWANNOMATOSIS," SOMATIC
- ... gene mutations that cause neurofibromatosis type 2, the somatic mutations associated with schwannomatosis occur only in the cells that give rise to the tumors. It appears that these somatic NF2 gene mutations do not cause schwannomatosis, although they are likely among the genetic factors ...
- ... instead of other tumor types, in people with schwannomatosis.It appears that germline variants in SMARCB1 alone are not enough to trigger the development of schwannomas. Additional somatic variants that are acquired during a person's ...
- ... of other types of tumor, in people with schwannomatosis.It appears that mutations in the LZTR1 gene alone are not enough to trigger the development of schwannomas. Additional genetic changes (somatic mutations) that are acquired during a person's ...
- ... required for schwannomas to form. The most common somatic mutations in schwannomas are mutations in the NF2 gene and a loss of chromosome 22 (which is the chromosome on which the SMARCB1, LZTR1, and NF2 genes are found).Some people with schwannomatosis do not have an identified mutation in the ...
- ... variant acquires a second variant (known as a somatic variant) in these cells and develops the tumors characteristic of neurofibromatosis type 2. ... PubMed Asthagiri AR, Parry DM, Butman ...
- ... SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 ... Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with ...
