Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

Of all these variants, only the ATM mutation c.8560C>T was found significantly increased in our PrCa patients comparing with our healthy controls ( P = 0.024; S3 Table ), with the CHEK2 mutation c.349A>G reaching borderline significance ( P = 0.057).

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When comparing the frequencies obtained in our PrCa patients with those of the Non-Finnish Europeans (NFE) described in ExAC, highly significant associations are obtained for all the ATM and CHEK2 missense mutations ( S3 Table ).

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