Truncating mutations in NF1 (one frameshift indel and two splicing mutations with two missense mutations) and in SF3B1 (one splicing mutation) were also observed in CMT, findings that are consistent with truncating mutations in human breast cancers (1.5% of putative driver mutations and mutations of unknown significance in NF1 and SF3B1, respectively)21. Here, SF3B1 is linked to breast cancer.