Article
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
International journal of cancer - 1 Dec 2018
Kayser Katrin, Degenhardt Franziska, Holzapfel Stefanie, Horpaopan Sukanya, Peters Sophia, Spier Isabel, Morak Monika, Vangala Deepak, Rahner Nils, von Knebel-Doeberitz Magnus, Schackert Hans K, Engel Christoph, Büttner Reinhard, Wijnen Juul, Doerks Tobias, Bork Peer, Moebus Susanne, Herms Stefan, Fischer Sascha, Hoffmann Per, Aretz Stefan, Steinke-Lange Verena
Abstract excerpt
In many families with suspected Lynch syndrome (LS), no germline mutation in the causative mismatch repair (MMR) genes is detected during routine diagnostics. To identify novel causative genes for LS, the present study investigated 77 unrelated, mutation-negative patients with clinically suspected LS and a loss of MSH2 in tumor tissue. An analysis for genomic copy number variants (CNV) was performed, with...
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