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Table 1 Clinical characteristics of ATM mutation carriers, and available tumour material used for analyses

From: Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

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
  1. 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
  2. (1,2,3,4,5) Reported as pathogenic for A-T in ClinVar
  3. *Align-GVGD grades are indicated in brackets for MS variants