Table 1.
Clinical characteristics of ATM mutation carriers, and available tumour material used for analyses
| Study | Patient ID | Sex | Nucleotide change | Effect on protein | Variant type* | Tumour ID | Age at diagnosis | Stade | Neoadjuvant treatment | Conservation | OncoScan Analysis |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A-T families (Retro-AT + CoF-AT) | AT1 | M | c.2839-580_577del4(-/-) | cryptic splice site | TV (1) | T0072-L | 28 | Invasive | Unknown | FFPE | Yes |
| AT2 | F | c.8585-2A>C | frameshift | TV | T0075-L | 42 | Invasive | Unknown | Bouin | No | |
| c.5189G>T | p.Arg1730Leu | MS (C0) | |||||||||
| AT3 | F | c.2413C>T | p.Arg805X | TV | T0249-L | 30 | Invasive | Unknown | FFPE | Yes | |
| c.7517_7520delGAGA | p.Arg2506ThrfsX3 | TV | |||||||||
| 1 | F | c.3576G>A | p.Ser1135_Lys1192del58 | TV | T0001-L | 62 | Invasive | No | FFPE+Frozen | No | |
| 2 | F | c.2839-580_577del4 | cryptic splice site | TV | T0002-L | 60 | Invasive | No | Bouin | No | |
| 3 | F | c.5644C>T | p.Arg1882X | TV | T0003-L | 45 | Invasive | No | FFPE | No | |
| 4 | F | c.3802delG | p.Val1268X | TV | T0005-L | 65 | Invasive | No | FFPE | Yes | |
| 5 | F | c.6007-2A>T | frameshift | TV | T0007-R | 74 | Invasive | No | FFPE | No | |
| 6 | F | c.3085dupA | p.Thr1029AsnfsX19 | TV | T0008-R | 51 | Invasive | Unknown | FFPE | No | |
| 7 | F | c.3894dupT | p.Ala1299CysfsX3 | TV | T0009-L | 36 | Invasive | No | FFPE | Yes | |
| 8 | F | c.6007-2A>T | frameshift | TV | T0010-L | 30 | Invasive | Unknown | Bouin | No | |
| 9 | F | c.6404_6405insTT | p.Arg2136X | TV | T0015-L | 40 | Invasive | No | FFPE+Frozen | Yes | |
| 10 | F | c.2466fs | del exon19-65 | TV | T0016-R | 62 | Invasive | No | Bouin | No | |
| T0016-L | 72 | Invasive | No | FFPE | Yes | ||||||
| 11 | F | c.3153+1G>A | frameshift | TV | T0073-L | 77 | Invasive | Unknown | Bouin | No | |
| 12 | F | c.8489T>G | p.Val2830Gly | MS (C65) | T0074-L | 62 | Invasive | Unknown | Bouin | No | |
| 13 | F | c.73-2A>G | frameshift | TV | T0076-R | 47 | Invasive | No | FFPE | Yes | |
| 14 | F | c.3754_3756delTATinsCA | p.Met2918IlefsX21 | TV | T0077-L | 66 | Invasive | No | FFPE+Frozen | Yes | |
| T0077-R | 66 | Invasive | No | FFPE+Frozen | Yes | ||||||
| 15 | F | c.8140C>T | p.Gln2714X | TV | T0078-L | 55 | Invasive | No | FFPE | Yes | |
| 16 | F | c.5644C>T | p.Arg1882X | TV | T0181-R | 39 | In situ | Unknown | FFPE | No | |
| 17 | F | c.8083G>A | p.Gly2695Ser | MS (C55) | T0247-R | 48 | Invasive | No | FFPE | Yes | |
| 18 | F | c.7928-2A>C | frameshift | TV | T0248-L | 35 | Invasive | Unknown | FFPE | Yes | |
| GENESIS | 19 | F | c.2413C>T | p.Arg805X | TV | T0045-R | 31 | Invasive | No | No material | - |
| T0045-R | 67 | In situ | No | FFPE | Yes | ||||||
| 20 | F | c.8584+1G>A | frameshift | TV | T0091-L | 51 | In situ | No | FFPE | No | |
| 21 | F | c.3058dupA | p.Leu1019fs | TV | T0099-L | 39 | Invasive | No | FFPE | Yes | |
| 22 | F | c.5497-2A>C | p.Val1833IlefsX | TV (2) | T0111-L | 32 | Invasive | No | FFPE | No | |
| 23 | F | c.9008A>T | p.Asn3003Ile | MS (C65) | T0118-L | 64 | Invasive | No | FFPE | No | |
| 24 | F | c.1464G>T | p.Trp488Cys | MS (C65) | T0120-R | 65 | Invasive | No | FFPE | Yes | |
| 25 | F | c.5527delC | p.Phe1843fs | TV | T0123-R | 74 | Invasive | No | FFPE | Yes | |
| 26 | F | c.5750G>C | p.Arg1917Thr | MS (C65) | T0191-L | 45 | Invasive | Unknown | FFPE | No | |
| 27 | F | c.1236-2A>T | p.Trp412X | TV | T0192-R | 42 | In situ | Unknown | FFPE | No | |
| 28 | F | c.8614C>A | p.His2872Asn | MS (C65) | T0218-R | 54 | Invasive | Unknown | FFPE | No | |
| 29 | F | c.8494C>T | p.Arg2832Cys | MS (3) (C45) | T0220-R | 42 | Invasive | No | FFPE | Yes | |
| kConFab | 30 | F | c.3801delG | p.Glu1267fs | TV | T0173-L | 44 | Invasive | Unknown | No material | - |
| T0173-R | 49 | Invasive | Unknown | FFPE | Yes | ||||||
| 31 | M | c.6820G>A | p.Ala2274Thr | MS (C55) | T0174-R | 45 | In situ | Unknown | FFPE | Yes | |
| 32 | F | c.4909+1G>A | frameshift | TV (4) | T0175-R | 42 | Invasive | Unknown | FFPE | Yes | |
| 33 | F | c.8266A>T | p.Lys2756X | TV (5) | T0176-R | 60 | Invasive | Unknown | FFPE | Yes | |
| 34 | F | c.8158G>C | p.Asp2720His | MS (C65) | T0177-L | 59 | Invasive | Unknown | FFPE | No | |
| 35 | F | c.8266A>T | p.Lys2756X | TV (5) | T0179-R | 41 | Invasive | Unknown | No material | - | |
| T0179-L | 50 | Invasive | Unknown | FFPE | Yes | ||||||
| 36 | F | c.7176_7177insT | p.Ser2394PhefsX9 | TV | T0180-R | 43 | Invasive | Unknown | FFPE | Yes |
AT ataxia-telangiectasia, F female, M male, TV truncating variant, MS missense substitution. L left, R right, FFPE formalin-fixed, paraffin-embedded tissue sample, Bouin Bouin-fixed, paraffin-embedded tissue sample
(1,2,3,4,5) Reported as pathogenic for A-T in ClinVar
*Align-GVGD grades are indicated in brackets for MS variants