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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Fig. 3

Schematic representation of BARD1, CHK2, PALB2 and PMS2 proteins and the variants associated with increased risk to HBOC. a Linear representation of BARD1 protein depicting the RING, Ankyrin (ANK), and BRCT domain boundaries [46], and the three variants found in that gene; (b) CHK2 depicting the SQ/TQ cluster domain (SCD), forkhead-associated domain (FHA), and the kinase domain (KD) [47], showing the localization of the two variants identified in that gene; (c) PALB2 protein with its main domains depicted: coiled coil, ChAM, MRG15-binding domain I and II (MBD I and II), WD40 repeats domain, and the nuclear export signal (NES) [48], showing the variants found as significantly associated HBOC risk; and (d) PMS2 with its ATP and MLH1 binding domains, and its endonuclease domain [49], depicting the variants identified in that gene. The graphs were built using the lolliplot function of the GenVisR package, on R environment (RStudio, version 1.2.1335), and were adapted by the authors

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