In:
International Journal of Cancer, Wiley, Vol. 145, No. 4 ( 2019-08-15), p. 941-951
Abstract:
What's new? About 2% of Wilms tumors run in families, and some of the mutations remain unknown. These authors identified a new Wilms tumor mutation, a truncation on the TRIM28 gene. They started by performing exome sequencing on tumors in pairs of affected children from 2 families. In these 4 patients, they found mutations in TRIM28 , which encodes a scaffold protein involved in DNA repair and genome stability. They then screened a cohort of 269 cases and found 8 more patients bearing TRIM28 loss‐of‐function mutations. The gene appears to function as a tumor suppressor with loss of heterozygosity in the tumor cells.
Type of Medium:
Online Resource
ISSN:
0020-7136
,
1097-0215
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
218257-9
detail.hit.zdb_id:
1474822-8
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