Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

Article Abstract:

Malignant rhabdoid tumours (MRTs) are aggressive childhood cancers and occur mainly in the kidney, brain and soft tissues. The deletion of region 11.2 of the chromosome 22 (22q11.2) is a recurring characteristic of MRTs suggesting it may encode a tumor suppressor gene. The most frequently deleted part of the chromosome was mapped and six homozygous deletions were observed, delineating the region of overlap in cell lines, in the hSNF5/INI1 gene. The bi-allelic changes of hSNF5/INI1 in MRTs indicate that its loss of function mutations contribute to oncogenesis.

Cancer research, Pediatric diseases, Children, Diseases, Cancer, Tumors

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Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

Article Abstract:

EWSR1 and EWSR2, two proteins produced by the chromosome translocation that characterizes Ewing's sarcoma and related neuroectodermal tumors, were used to demonstrate that the translocation changes the open reading frame of an expressed gene on the chromosome 22 gene by inserting a sequence encoding a RNA-binding domain in place of the DNA-binding domain for the human homologue of the mouse gene Fli-1. This finding should stimulate further genetic research on the neuroectodermal tumors.

Translocation (Genetics), DNA binding proteins, Human chromosome abnormalities, Ewing's sarcoma

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Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2

Article Abstract:

Cloning of the polymorphic marker region on chromosome 22 revealed defects in a new gene that causes neurofibromatosis 2 (NF2). Analysis of the site revealed germ-line and somatic mutations involved in NF2 and NF2 related tumors, respectively. The newly identified SCH gene was found to be homologous to erythrocyte protein 4.1, which is localized in the plasma membrane area.

Neurogenetics, Neurofibromatosis

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