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Fig. 2 | BMC Cancer

Fig. 2

From: Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

Fig. 2

Distribution of carriers of additional DNA-repair mutation in each cohort regarding the type of pathway. 43 truncating variants were detected in 36 DNA-repair genes. These truncating variants mainly affected double-strand break repair (DSBR), single-strand break repair (SSBR), BRCA1/2 interactors, centrosome formation, and check-point factors. No significant difference was found in DSBR, SSBR, BRCA1 / BRCA2 interactors, checkpoint factors and other pathways mutational load between the two cohorts. Two cases in the early AAO cohort carried an additional mutation in BRCA1 / BRCA2 interactor genes while no mutation acrrier in these genes was found in control cohort. The width of each block referes to the porportion of mutated pathway among all mutated pathways and the hight of each block referes to the porportion of mutated samples in each cohort. Mutated genes in each pathways are shown in boxes

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