Feliubadaló i Elorza, Maria LídiaTonda, RaulGausachs Romero, MireiaTrotta, Jean RémiCastellanos, ElisabethLópez Dóriga Guerra, AdrianaTeulé-Vega, ÀlexTornero, EvaValle Domínguez, Jesús delGel Moreno, BernatGut, MartaPineda Riu, MartaGonzález, SaraMenéndez Vilà, MireiaNavarro, MatildeCapellá, G. (Gabriel)Gut, Ivo G.Serra Arenas, EduardBrunet, JoanBeltran i Agulló, SergiLázaro García, Conxi2018-11-052018-11-052017-01-042045-2322https://hdl.handle.net/2445/125834Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes.application/pdfengcc-by (c) Feliubadaló i Elorza, Maria Lídia et al., 2017http://creativecommons.org/licenses/by/3.0/esCàncerMalalties hereditàriesDiagnòsticCribratge genèticCancerGenetic diseasesDiagnosisGenetic screeninginfo:eu-repo/semantics/article6761512018-11-05info:eu-repo/semantics/openAccess28050010