Article
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Familial cancer - 1 Apr 2017
Rohlin Anna, Rambech Eva, Kvist Anders, Törngren Therese, Eiengård Frida, Lundstam Ulf, Zagoras Theofanis, Gebre-Medhin Samuel, Borg Åke, Björk Jan, Nilbert Mef, Nordling Margareta
Abstract excerpt
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC...
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