Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

Volume: 50, Issue: 5, Pages: 987 - 996
Published: Mar 1, 2014
Abstract
null Background null Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. null Methods null We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was...
Paper Details
Title
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
Published Date
Mar 1, 2014
Volume
50
Issue
5
Pages
987 - 996
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