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Table 3 Mutations in BC/OC susceptibility genes identified and clinical presentation in respective patients

From: Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

# Exon cDNA-change Predicted AA-change BIC GnomAD Age at diagnosis Contra-lateral disease Other cancers Family BC/OC history
  BRCA1
1 2 c.68_69delAG p.(Glu23Valfs*17) 185delAG 1.987e−4 46 34 y lymphoepithelial cancer
Repeated skin cancer of unknown origin
BC
2 5 c.181 T > G p.(Cys61Gly) C61G 3.255e−5 38 BC
3 5 c.181 T > G p.(Cys61Gly) C61G 3.255e−5 43 36 y/ 42 y basalioma OC
4 11 c.904delG p.(Ala302Leufs*12) 1023delG 0 30 BC, OC
5 11 c.962G > A p.(Trp321*) W321X 8.237e−6 29 BC 3rd degree relative
6 11 c.1127delA p.(Asn376Ilefs*18) 1246delA 0 23/23 yes BC
7 11 c.1396delC p.(Arg466Glyfs*9) 0 45 BC, OC
8 11 c.1504_1508delTTAAA p.(Leu502Alafs*2) 1623del5 8.135e−6 40/54 yes BC, OC
9 11 c.1504_1508delTTAAA p.(Leu502Alafs*2) 1623del5 8.135e−6 54 BC, OC
10 11 c.1916 T > A p.(Leu639*) L639X 0 34 BC, OC
11 11 c.1916 T > A p.(Leu639*) L639X 0 42 BC, OC
12 11 c.2411_2412delAG p.(Gln804Leufs*5) 2530delAG 0 37
13 11 c.2411_2412delAG p.(Gln804Leufs*5) 2530delAG 0 33 BC, OC
14 11 c.2411_2412delAG p.(Gln804Leufs*5) 2530delAG 0 33
15 11 c.2411_2412delAG p.(Gln804Leufs*5) 2530delAG 0 45/52 yes BC
16 11 c.2411_2412delAG p.(Gln804Leufs*5) 2530delAG 0 53 BC
17 11 c.3481_3491del p.(Glu1161Phefs*3) 3600del11 0 40 BC, OC
18 11 c.3481_3491del p.(Glu1161Phefs*3) 3600del11 0 46 BC, unk. Abd. canc.
19 11 c.3481_3491del p.(Glu1161Phefs*3) 3600del11 0 65
20 11 c.3627dupA p.(Glu1210Asnfs*11) 3746ins A 0 59 BC
21 11 c.3700_3704delGTAAA p.(Val1234Glnfs*8) 3819del5 0 43/47 yes BC
22 11 c.3700_3704delGTAAA p.(Val1234Glnfs*8) 3819del5 0 50 BC, OC
23 11 c.4035delA p.(Glu1346Lysfs*20) 4154delA 4.066e−6 43 BC
24 11 c.4676-1G > A   IVS15-1G > A 0 30/30 yes BC 4th degree relative
25 13–15 Deletion exon 13–15   0 58 BC
26 20 c.5194_5277del p.(His1732_Lys1759del) Exon20del 0 32/36 yes BC
27 20 c.5266dupC p.(Gln1756Profs*74) 5382insC 0 33
28 20 c.5266dupC p.(Gln1756Profs*74) 5382insC 0 33 BC, OC
29 20 c.5266dupC p.(Gln1756Profs*74) 5382insC 0 30/48 yes
30 20 c.5266dupC p.(Gln1756Profs*74) 5382insC 0 35 BC, unk. Abd. canc.
31 20 c.5266dupC p.(Gln1756Profs*74) 5382insC 0 39 BC, unk. Abd. canc.
32 21–24 c.5278-?_5592 +?del Deletion exon 21–24 0 33 BC, unk. Abd. canc.
33 21 c.5291 T > C p.(Leu1764Pro) L1764P 0 42 BC
34 24 c.5492delC p.(Pro1831Leufs*3) 6511delC 0 45 BC
  BRCA2
1 5 c.516 + 2 T > A   IVS6 + 2 T > A 0 41 BC
2 10 c.1813dupA p.(Ile605Argfs*9) 2041ins A 0 29 BC
3 10 c.1813dupA p.(Ile605Argfs*9) 2041ins A 0 29 BC
4 11 c.2244_2245del p.(Tyr748*) 2472delCA 0 31
5 11 c.5303_5304delTT p.(Leu1768Argfs*5) 5531delTT 4.075e−6 42 OC
6 11 c.5616_5620delAGTAA p.(Lys1872Asnfs*2) 5844del5 4.126e−6 42
7 11 c.6486_6489del4 p.(Lys2162Asnfs*5) 6714del4 8.785e−6 29/33 yes BC 3rd degree relative
8 15 c.7180A > T p.(Arg2394*) R2394X 0 51/64 yes BC
9 15 c.7617 + 2 T > G   7829 + 2 T > G 0 53 BC
10 17 c.7878G > C p.Trp2626Cys W2626C 4.064e−6 63 BC
11 20 c.8560delT p.(Tyr2854Metfs*9) 8788delT 0 38/52 yes BC
12 22 c.8755-1G > A   IVS21-1G > A 0 68 BC, OC
13 23 c.8992_9025del34 p.(Ser2998Ilefs*19) 0 60
# Exon cDNA-change Predicted AA-change ClinVar (number of reported individuals) GnomAD frequency Age at diagnosis Contra-lateral disease Other cancers Family BC/OC history
  RAD51C
1 7 c.955C > T p.(Arg319*) Pathogenic (5) 8.128e−6 30 BC
2 8 c.1026 + 5_ + 7delGTA   Likely pathogenic (5)
Pathogenic (1)
0 43 64 y non-Hodgkin-lymphoma BC
3 8 c.1026 + 5_ + 7delGTA   Likely pathogenic (5)
Pathogenic (1)
0 51 BC, unk. Abd. canc.
  RAD51D
1 7 c.577-2A > G   Likely pathogenic (1) 0 52
  CHEK2
1 4 c.470 T > C p.(Ile157Thr) Likely pathogenic (4)
Pathogenic (7)
Unknown (3)
5.061e−3 50 BC 3rd degree relative
2 4 c.470 T > C p.(Ile157Thr) Likely pathogenic (4)
Pathogenic (7)
Unknown (3)
5.061e−3 47 yes
  NBN
1 6 c.657_661del5p p.(Lys219Asnfs*16) Pathogenic (12)
Risk factor (1)
1.988e−4 56 66 y OC BC
  ATM
1 26 c.3802delG p.(Val1268Terfs*1) Pathogenic (5) 3.972e−5 40
  PALB2
1 4 c.1227_1231delTGTTA p.(Tyr409*) 0 44 25 y melanoma BC 3rd degree relative
2 11 c.3165C > A p.(Tyr1055*) Pathogenic (1) 0 47
  1. BC breast cancer, OC ovarian cancer, unk. Abd. canc abdominal cancer of unknown origin