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Schwannomatosis "1," somatic
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SCHWANNOMATOSIS 1; SWN1 SCHWANNOMATOSIS 2; SWN2 PubMed Boyd C, Smith MJ, Kluwe ...
- ... 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 ...
- ... to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123-6. doi: ... in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 ...
- ... 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 ...