ATM sequencing analysis of REF-positive MCL.

Arrows point to nucleotide positions affected by mutations. (A) Missense mutation in sample 2, resulting in R3008H. (B) Missense mutation in sample 6, resulting in D2725V. (C) Substitution of the first methionine in sample 7, resulting in M1L. (D) Nonsense mutation (R23stop) and a downstream 4-bp deletion in sample 8 (left). Germline DNA sequencing of the same patient showing the absence of the deletion (center) and the presence of the R23stop mutation in heterozygosity (right). Brackets span over the deleted nucleotides. (E) Heterozygous missense mutation resulting in K2717M in sample 12 (left). The germline DNA of the same patient (right) shows a normal sequence demonstrating the somatic acquired origin of this mutation in the tumor. (F) Sample 13 showing a 2-bp deletion resulting in FS564stop with no evidence of the normal allele (left). Germline DNA sequencing of the same patient (right), demonstrating the somatic acquired origin of this deletion in the tumor sample. Brackets span the deleted nucleotides.