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Fig. 2 | BMC Medicine

Fig. 2

From: Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies

Fig. 2

Germline single-variant association results for multiple primary cancers combined or grouped by organ site. Suggestive (p < 5 × 10−6) germline variant associations with multiple cancer phenotypes versus cancer-free controls (n = 165,853) following a fixed-effects meta-analysis of Kaiser Permanente Research Bank and UK Biobank WES data. Associations were detected for any 2+ primary cancers (n = 6429) and with groups of cases defined by a shared index cancer, at any time point, plus any other cancer diagnosis: melanoma + (n = 1443), prostate + (n = 1977), breast + (n = 1874), head and neck + (n = 283), thyroid + (n = 198), urinary bladder + (n = 829), colorectal + (n = 1324), and lymphoid neoplasms + (n = 728). Variants that have been previously associated in single cancer studies have superscript (a). The heatmap reflects the number of carriers with the risk-increasing allele for each associated variant with the index (y-axis) and additional (x-axis) cancer over the total number of carriers, restricting to cancer cases. When the index and additional cancer are the same, the heatmap value represents all carriers with the specified cancer diagnosis divided by the total number of carriers. Abbreviations: SNP, single nucleotide polymorphism; EA, effect allele; OR, odds ratio

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