Table 2.
Alterations affecting both ATM alleles in mantle cell lymphomas of non-A-T individuals*
| Mantle cell lymphoma | First
allele
|
Second allele
|
||
|---|---|---|---|---|
| DNA†‡ | Gene product | DNA‡ | Gene product | |
| MCL-A§¶ | del(11q22-q23) | — | IVS59 → T (intron 59) | Exon 59 skipped: Val2757-Met2806del |
| MCL-C | del(11q22-q23) | — | 9022C → T (exon 65) | Arg3008Cys |
| MCL-D | del(11q22-q23) | — | 2250C → G (exon 16) | Asn750Lys |
| MCL-E | del(11q22-q23) | — | 6709–6710delAA (exon 48) | Frameshift after Glu2236 + truncation |
| MCL-F | del(11q22-q23) | — | 7349–7350insT (exon 52) | Frameshift after Glu2449 + truncation |
| MCL-G§ | del(11q22-q23) | — | 4081C → T (exon 29) | Gln1361ter |
| MCL-H§ | del(11q22-q23) | — | 6638delA (exon 48) | Frameshift after Leu2212 + truncation |
| MCL-B¶ | 7268A → G (exon 51) | Glu2423Gly | 7253–7254insGAA (exon 51) | Lys2418–2419ins |
| MCL-J | 487C → T (exon 7) | Gln163ter | 7890–7891insTATTA (exon 55) | Frameshift after Leu2630 + truncation |
| Exon 7 skipped: Arg111Lys + Ala112-Lys166del | ||||
The polymorphic change Asp1853Asn detected in cases with (MCL-G) and without (MCL-K) monoallelic ATM deletion is not listed.
† The deletion mapping by interphase FISH is described in ref. 20; del(11q22-q23) indicates loss of one copy of the chromosomal region 11q22-q23 containing ATM.
‡ The exon numbering is according to refs. 22 and 23 (GenBank accession no. U82828). The nucleotide positions refer to the sequence of the ATM transcript (GenBank accession no. U33841); the first codon of the ORF was designated +1. The nomenclature of the mutations was used as suggested by Antonarakis and Group (45).
§ For those patients, the analysis of the germ-line status of ATM was possible.
¶ MCL-A and MCL-B were included in a previous study (41).