In:
International Journal of Cancer, Wiley, Vol. 137, No. 2 ( 2015-07-15), p. 320-331
Abstract:
What's New? A substantial number of families with adenomatous polyposis and Lynch‐like phenotype have no known underlying germline mutations. Recently new mutations in the genes encoding DNA polymerase epsilon and delta were identified. Here the authors characterize the frequency and phenotypic spectrum of this newly described polymerase proofreading‐associated polyposis (PPAP) syndrome. They broadened the tumor spectrum to duodenal neoplasias, extraintestinal tumors and multiple colorectal carcinomas, underscoring the clinical relevance of this syndrome beyond adenomatous polyposis. In addition, they identified nine novel, potentially pathogenic variants in four polymerase genes.
Type of Medium:
Online Resource
ISSN:
0020-7136
,
1097-0215
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
218257-9
detail.hit.zdb_id:
1474822-8