Alterations Affecting Both ATM Alleles in Malignant B-Cell Lymphomas of Non–A-T Individuals
| B-Cell Lymphoma . | First Allele . | Second Allele . | ||
|---|---|---|---|---|
| DNA*,† . | Gene Product . | DNA† . | Gene Product . | |
| B-CLL-A | del(11q22-q23) | — | 8412delA (exon 59) | Frameshift after codon 2804 + truncation of the protein |
| B-CLL-B1-153 | del(11q22-q23) | — | 9139C > T (exon 65) | Arg3047ter |
| B-CLL-C | del(11q22-q23) | — | 5858C > G (exon 41) | Thr1953Arg |
| B-CLL-D1-153 | del(11q22-q23) | — | 9023G > A (exon 65) | Arg3008His |
| B-CLL-E1-153 | del(11q22-q23) | — | 9054A > C (exon 65) | Lys3018Asn |
| MCL-A1-153 | del(11q22-q23) | — | IVS59 + 1G > T (intron 59) | Skipping of exon 59: Del Val2757-Met2806 |
| B-CLL-F | Nondeleted‡ | Unknown | 5558A > T (exon 39) | Asp1853Val |
| B-CLL-G | Nondeleted | Unknown | 7258G > C (exon 51) | Ala2420Pro |
| MCL-B | 7268A > G (exon 51) | Glu2423Gly | 7250insGAA (exon 51) | Ins Lys2419 |
| B-Cell Lymphoma . | First Allele . | Second Allele . | ||
|---|---|---|---|---|
| DNA*,† . | Gene Product . | DNA† . | Gene Product . | |
| B-CLL-A | del(11q22-q23) | — | 8412delA (exon 59) | Frameshift after codon 2804 + truncation of the protein |
| B-CLL-B1-153 | del(11q22-q23) | — | 9139C > T (exon 65) | Arg3047ter |
| B-CLL-C | del(11q22-q23) | — | 5858C > G (exon 41) | Thr1953Arg |
| B-CLL-D1-153 | del(11q22-q23) | — | 9023G > A (exon 65) | Arg3008His |
| B-CLL-E1-153 | del(11q22-q23) | — | 9054A > C (exon 65) | Lys3018Asn |
| MCL-A1-153 | del(11q22-q23) | — | IVS59 + 1G > T (intron 59) | Skipping of exon 59: Del Val2757-Met2806 |
| B-CLL-F | Nondeleted‡ | Unknown | 5558A > T (exon 39) | Asp1853Val |
| B-CLL-G | Nondeleted | Unknown | 7258G > C (exon 51) | Ala2420Pro |
| MCL-B | 7268A > G (exon 51) | Glu2423Gly | 7250insGAA (exon 51) | Ins Lys2419 |
The deletion mapping by interphase FISH is described in Stilgenbauer et al23; del(11q22-q23) indicates loss of one copy of the chromosomal region 11q22-q23 containing ATM.
The exon numbering is according to Uziel et al6 and Platzer et al7 (GenBank no. U82828); nucleotide positions refer to the sequence of the ATM transcript (GenBank no.U33841). The first codon of the open reading frame was designated +1. The nomenclature of the mutations was used as suggested by Beaudet and Tsui (1993).46
B-CLL-F has a translocation in 11q23, which is localized approximately 2 Mbp distal from the ATM gene.23
For those patients, the analysis of the germline status ofATM was possible.