Article
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
International journal of cancer - 15 Mar 2015
Kraus Cornelia, Rau Tilman T, Lux Philipp, Erlenbach-Wünsch Katharina, Löhr Sabine, Krumbiegel Mandy, Thiel Christian T, Stöhr Robert, Agaimy Abbas, Croner Roland S, Stürzl Michael, Hohenberger Werner, Hartmann Arndt, Reis André
Abstract excerpt
Germline mutation testing in patients with colorectal cancer (CRC) is offered only to a subset of patients with a clinical presentation or tumor histology suggestive of familial CRC syndromes, probably underestimating familial CRC predisposition. The aim of our study was to determine whether unbiased screening of newly diagnosed CRC cases with next generation sequencing (NGS) increases the overall detection rate...
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