Article
Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Cancer genomics & proteomics - 1 Jan 2000
Agiannitopoulos Konstantinos, Pepe Georgia, Tsaousis Georgios N, Potska Kevisa, Bouzarelou Dimitra, Katseli Anastasia, Ntogka Christina, Meintani Angeliki, Tsoulos Nikolaos, Giassas Stylianos, Venizelos Vassileios, Markopoulos Christos, Iosifidou Rodoniki, Karageorgopoulou Sofia, Christodoulou Christos, Natsiopoulos Ioannis, Papazisis Konstantinos, Vasilaki-Antonatou Maria, Kabletsas Eleftherios, Psyrri Amanta, Ziogas Dimitrios, Lalla Efthalia, Koumarianou Anna, Anastasakou Kornilia, Papadimitriou Christos, Ozmen Vahit, Tansan Sualp, Kaban Kerim, Ozatli Tahsin, Eniu Dan Tudor, Chiorean Angelica, Blidaru Alexandru, Rinsma Marrit, Papadopoulou Eirini, Nasioulas George
Abstract excerpt
BACKGROUND/AIM: Germline copy number variation (CNV) is a type of genetic variant that predisposes significantly to inherited cancers. Today, next-generation sequencing (NGS) technologies have contributed to multi gene panel analysis in clinical practice. MATERIALS AND METHODS: A total of 2,163 patients were screened for cancer susceptibility, using a solution-based capture method. A panel of 52 genes was used...
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