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Fig. 1 | Genome Medicine

Fig. 1

From: A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Fig. 1

Study design for discovery and investigation of FANCI variants. a Pedigree F1528, a rare FC family with four cases of OC, in which FANCI c.1813C>T; p.L605F was discovered. WES was performed on the sisters, Ov 52 and FtOv 57 in generation III, who are BRCA1 and BRCA2 pathogenic variant negative. Cancer type (Ov: ovarian, Ft: fallopian tube, Lg: lung, and ENT: ear, nose, throat) and age of diagnosis are shown; c next to a symbol denotes a confirmed cancer case. The location of p.L605F is shown (bottom). Solenoid domain: antiparallel pairs of α-helices that form α-α superhelix segments; Helical domain: α-helices; Ubiquitination site, K523: site of monoubiquitination by the FA core complex to allow downstream FA pathway function [36, 37]; S/TQ cluster: location of conserved phosphorylation sites [34]. b Functional analyses of FANCI isoforms using HeLa cells. c–e Estimation of FANCI c.1813C>T; p.L605F carrier frequency in cases and controls. FANCI domains were adapted from pfam (https://pfam.xfam.org). FANCI exon locations adapted from University of California Santa Cruz Genome Browser (https://genome.ucsc.edu)

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