摘要: Germline TP53 mutations are responsible for the large majority of classic LFS families, and a smaller proportion LFL families. In some families shown to have no germline mutation, hChk2 been described. cases functional consequences latter demonstrated, although there still relatively few reports such mutations. Due paucity currently described with mutations, it is not possible reach any conclusions concerning phenotypic/clinical differences between two types mutation. At least one family mutation family, whereas others LFL, variant-LFS, or phenotypically suggestive LFS. However, significant number LFS/LFL which underlying genetic determinant has identified. It will be fascinating see what defects responsible, whether they involve additional components DNA damage recognition, repair, cell cycle checkpoint pathways.
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