We previously identified the FANCM c.5101C>T nonsense mutation (rs147021911, p.Gln1701*) in exon 20 by exome sequencing of germline DNA samples from 24 BRCA1/2-negative breast cancer patients and further genotyped it in a large series of Finnish breast cancer patients and healthy population controls [12]. The gene discussed is FANCM; the disease is breast carcinoma.