PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.

In order to understand whether PIBF1 mutations often act in conjunction with mutations in other cancer susceptibility genes, we analysed the genetic data of cancer patients in the TCGA database, in which 121 patients with PIBF1 mutations showed highly significant correlations with BRCA2 and RAD51(Fig. 1 G).

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