Extended Data Fig. 3: Comparison of the clinical impact of P/LP variants in different genes for the same CDC Tier1 genomic condition. | Nature Medicine

Extended Data Fig. 3: Comparison of the clinical impact of P/LP variants in different genes for the same CDC Tier1 genomic condition.

From: Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Extended Data Fig. 3

a-d, Disease-free survival (DFS) for carriers (n = 273) in the Healthy Nevada Project for individuals with medical records at Renown Health. Data are shown for P/LP variant carriers for BRCA1 (n = 54) and BRCA2 (n = 81) for HBOC (a), for P/LP variant carriers for MSH6 (n = 23) and PMS2 (n = 32) for all-cause cancers. There was not sufficient data to explore MLH1 or MSH2 independently (b), for P/LP variant carriers for APOB (n = 14) and LDLR (n = 58) for presentation of hyperlipidemia and (d) for treatment with anti-hyperlipidemic medication. There was not sufficient data to explore PCSK9 independently. Solid colored lines (and the matching shaded regions) are survival curves with 95% confidence intervals. The dotted lines represent the median survival age. p-values represent the results of a 2-sided log-rank test. No adjustments were made for multiple comparisons.

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