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. 2021 Apr 20;11(4):733. doi: 10.3390/diagnostics11040733
# Alteration Found Treatment Recommendation Follow-Up
1 PIK3CA, ESR1 and TP53 mutations PIK3CA-Gene: chr3: 178952085, Exon 21, c.3140A > G (NM_006218.3), p.His1047Arg alpelisib lost to follow up
ESR1-Gene: chr6: 152332832, Exon 6, c.1138G > C (NM_001122740.1), p.Glu380Gln
TP53-Gene: chr17: 7579558, Exon 4, c.128delT (NM_000546.5), p.Leu43Ter
2 FGFR1, AR and CCND1 amplifications FGFR1-Gene: chr8: 38271444, CNV: 9.83

  1. CDK4/6 inhibitor

  2. Everolimus

  3. AR inhibitor

 not implemented
AR-Gene: chrX: 66776185, CNV: 8
CCND1-Gene: chr11: 69456941, CNV: 10.57
3 PIK3CA and ESR1 mutations;
TBL1XR1-PIK3CA gene fusion		 External analysis

  1. alpelisib

  2. everolimus

 implemented
4 PIK3CA mutation PIK3CA-Gene: chr3: 178936091, Exon 10, c. 1633G>A (NM_006218.3), p.Glu545Lys alpelisib implemented
5 ERBB2 amplification External analysis HER2 inhibitor not implemented
6 CCND1 amplification CCND1-Gene: 11q13.3, chr11: 69456941, CNV: 9.3

  1. CDK4/6 inhibitor

  2. palbociclib + fulvestrant

  3. everolimus

 implemented
7 PIK3CA, PTEN mutations and AKT3 amplification PIK3CA-Gene: chr3: 178936082, Exon 10, c. 1624G > A (NM_006218.3), p.Glu542Lys mTOR inhibitor implemented
PTEN-Gene: chr10: 89720803, Exon 8, c.955_956insA, (NM_000314.6 p.Thr319fs
AKT3-Gene: 1q43q44, chr:1: 243662992, CNV: 5.9
8 FGFR1 and AKT2 amplifications;
TP53 mutation		 FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 15.33 FGF1 inhibitor not implemented
AKT2-Gene: 19q13.2, chr19: 40739755, CNV: 11.61
TP53-Gene: chr17: 7579320, Exon 4, c.365_366delTG (NM_000546.5), p.Val122fs
9 ERBB2 mutation ERBB2-Gene: Exon 19, chr17: 37880220, c.2264T > C (NM_004448.3), p.Leu755Ser afatinib/neratinib not implemented
10 PTEN deletion PTEN-Gene: Exon 8, chr10: 89720798, c.955_958delACTT (NM_000314.4), p.Thr319Ter

  1. IPATunity130 trial (NCT03337724)

  2. exemestane + everolimus

 not implemented
11 PIK3CA mutation PIK3CA-Gene: chr3: 178936091, Exon 10, c. 1633G > A (NM_001127500.2), p.Glu545Lys everolimus not implemented
12 FGFR1, FGF19 and FGF3 mutations FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 24.97

  1. mTOR inhibitor

  2. pazopanib

 implemented
FGF19-Gene: 11q13.3, chr11: 69513954, CNV: 19.73
FGF3-Gene: 11q13.3, chr11: 69624976, CNV: 12.97
13 MET mutation MET-Gene: Exon 14, chr7: 116411990, c.3029C > T (NM_001127500.1), p.Thr1010Ile crizotinib not implemented
14 MYC, FGFR1 and CCND1 amplifications MYC-Gene: chr8: 128748884, CNV: 18.8 everolimus implemented
FGFR1-Gene: chr8: 38271444, CNV: 20.13
CCND1-Gene: chr11: 69456941, CNV: 38.33
15 BRCA1 mutation;
AR amplification		 BRCA1 (external analysis)AR-Gene: chrX: 66776185, CNV: 7.87

  1. trial (NCT01945775)

  2. trial (NCT02163694)

  3. bicalutamide/tamoxifen

 not implemented
16 PIK3CA mutation PIK3CA-Gene: Exon21, chr3: 178952074, c. 3129G > A (NM_006218.2), p.Met1043Ile

  1. SOLAR-1 trial

  2. IPATunity130 trial

  3. everolimus

 not implemented
17 AKT2 amplification;
SF3B1 mutation		 AKT2-Gene: 19q13.2, chr19: 40739755, CNV: 5.44 everolimus + hormone therapy not implemented
SF3B1-Gene: chr2: 198266834, Exon 15, c.2098A > G (NM_012433.3), p.Lys700Glu
18 PIK3CA mutation;
MET amplification		 PIK3CA-Gene: chr3: 178952085, Exon 21, c. 3140A > G (NM_006218.3), p.His1047Arg crizotinib not implemented
MET-Gene: 7q31.2, chr7: 116339592, CNV: 4.61
19 FGFR1 amplification FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 9.6

  1. pazopanib

  2. MASTER trial

 not implemented
20 ESR1 and PALB2 mutations;
ESR1-CCDC170 fusion		 ESR1-Gene: chr6: 152419923, Exon 9, c.1610A > C (NM_001122740.1), p.Tyr537Ser

  1. platin-based chemotherapy

  2. olaparib

 not implemented
PALB2-Gene: chr16: 23641065, Exon 5, c.2409_2410insAC (NM_024675.3), p.Ser804fs
ESR1-CCDC170 fusion: chr6: 151894309, t(6;6) (q25;q25), ESR1(Ex2)-CCDC170(Ex6)
21 FGFR1 and MYC amplifications;
TP53 mutation		 FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 19.83

  1. FGFR1 inhibitor

  2. mTOR inhibitor

 not implemented
MYC-Gene: 8q24.21, chr8: 128748724, CNV: 12.17
TP53-Gene: chr17: 7578500, Exon 5, c.423_432delinsCA (NM_00546.5), p.Pro 142fs
22 ERBB2 amplification ERBB2-Gene: chr17: 37868125, CNV: 24.98 lapatinib, trastuzumab emtansine and pertuzumab not implemented
23 ARID1A and PIK3CA mutations ARID1A-Gene: chr1: 27023060, Exon 1, c.166C > T (NM_006015.5), p.Gln56Ter everolimus implemented
PIK3CA-Gene: chr3: 178936091, Exon 10, c.1633G > A (NM_006218.3), p.Glu545Lys
24 ESR1 mutation ESR1-Gene: chr6: 152419926, Exon 9, c.1613A > G (NM_001122740.1), p.Asp538Gly fulvestrant + everolimus not implemented
25 FGFR1, CCND1, FGF19 and IGF1R amplifications; ATM mutation FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 10.33 mTOR inhibitor implemented
CCND1-Gene: 11q13.3, chr11: 69455972, CNV: 7.54
FGF19-Gene: 11q13.3, chr11: 69513954, CNV: 7.95
IGF1R-Gene: 15q26.3, chr15: 99192814, CNV: 27.06
ATM-Gene: chr11: 108190701, Exon 44, c.6370_6371insT (NM_000051.3), p. Tyr2124fs
26 TP53 mutation; FGFR1, CCND1, FGF19 und FGF3 amplifications TP53-Gene: chr17: 7577121, Exon 8, c.817C > T (NM_000546.5), p.Arg273Cys FGFR1 inhibitor not implemented
FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 20.63
CCND1-Gene: 11q13.3, chr11: 69455972, CNV: 8.37
FGF19-Gene: 11q13.3, chr11: 69513954, 1 CNV: 0.93
FGF3-Gene: 11q13.3, chr11: 69624976, CNV: 15.77
27 PIK3CA, ERBB2, CDKN2A mutations PIK3CA-Gene: chr3:178936091, Exon 10, c.1633G > A (NM_006218.3), p.Glu545Lys

  1. TDM1 + alpelisib

  2. neratinib

  3. CDK4/6 inhibitor

  4. everolimus; in combination with trastuzumab

 not implemented
ERBB2-Gene: chr17: 37880219, Exon 19, c.2264T > C (NM_004448.3), p.Leu755Ser
CDKN2A-Gene: chr9:21974748, Exon 1, c.79G > T (NM_001195132.1, p.Glu27Ter
28 TPM3(7)-NTRK1(10) fusion TPM3(7)-NTRK1(10)-Gene: Exon 7 (I), chr1: 154142875-chr1: 156844362 trial (NCT02568267) not implemented
29 MET mutation MET-Gene: Exon 2, chr7: 116411990, c.3029C > T (NM_001127500.1), p.Thr1010Ile cabozantinib not implemented
30 KRAS and PIK3CA mutations KRAS-Gene: chr12: 25398284, Exon 2, c.34G > C (NM_033360.3), p.Gly12Arg peg-Doxorubicin/bevacizumab und temsirolimus/everolimus not implemented
PIK3CA-Gene: chr3: 178936082, Exon 10, c.1624G > A (NM_006218.3), p.Glu542Lys
PIK3CA-Gene: chr3: 178938934, Exon 14, c.2176G > A (NM_006218.3), p.Glu726Lys
31 AR and PIK3CA mutations AR-Gene: chrX: 66941751, Exon 6, c.2395C > G (NM_000044.3), p.Gln799Glu everolimus not implemented
PIK3CA-Gene: chr3: 178936091, Exon 10, c.1633G > A (NM_006218.3), p.Glu545Lys
32 MET, CCND1, FGF19, FGF3 amplifications MET-Gene: 7q31.2, chr7: 116339592, CNV: 4.66 FGF1 inhibitor implemented
CCND1-Gene: 11q13.3, chr11: 69455972, CNV: 20.87
FGF19-Gene: 11q13.3, chr11: 69513954, CNV: 18.61
FGF3-Gene: 11q13.3, chr11: 69624976, CNV: 18.49
33 FGFR1, CCND1, EGFR, PIK3CA und PDGFRA amplifications External analysis pazopanib not implemented
34 PIK3CA mutation; ERBB2 amplification External analysis

  1. HER2 inhibitor

  2. HER2 inhibitor + neratinib

  3. PIK3CA inhibitor

 not implemented
35 ERBB2 mutation; CCNE1, AKT2, ERBB2 amplifications ERBB2-Gene: chr17: 37868208, Exon 8, c.929C > A (NM_004448.3), p.Ser310Tyr trastuzumab + lapatinib implemented
CCNE1-Gene: 19q12, chr19: 30303882, CNV: 5.51
AKT2-Gene: 19q13.2, chr19: 40739755, CNV: 6.09
ERBB2-Gene: 17q12, chr17: 37868168, CNV: 8.46
36 ESR1 and PIK3CA mutations ESR1-Gene: chr6: 152419922, Exon 9, c.1609T > A (NM_001122740.1), p.Tyr537Asn

  1. trial (NCT03056755)

  2. everolimus

 not implemented
PIK3CA-Gene: chr3: 178936091, Exon 10, c.1633G > A (NM_006218.3), p.Glu545Lys
37 p16 high expression and MYC amplification MYC-Gene: chr8: 128748884, CNV: 5.61 checkpoint inhibitors implemented
38 AKT3 amplification and TP53 mutation AKT3-Gene: 1q43q44, chr1: 243662992, CNV: 6.04 MASTER trial not implemented
TP53-Gene: chr17: 7578189, Exon 6, c.660T > A (NM_000546.5), p.Tyr220Ter
39 AR amplification AR-Gene: chrX: 66776185, CNV: 7.65 AR inhibitors not implemented
40 AKT1 mutation AKT1-Gene: chr14: 105246551, Exon 3, c.49G > A (NM_001014431.1), p.Glu17Lys

  1. AKT inhibitors

  2. IPATunity130 trial (NCT03337724)

  3. everolimus

 not implemented
41 SLX4 mutation; FGFR1, CCND1, FGF19, FGFR3 amplifications SLX4-Gene: chr16: 3640038, Exon 12, c.3601C > T (NM_032444.3), p.Gln1201Ter pazopanib implemented
FGFR1-Gene: 8p11.23, chr8: 38271114, CNV: 15.4
CCND1-Gene: 11q13.3, chr11: 69455972, CNV: 5.83
FGF19-Gene: 11q13.3, chr11: 69513954, CNV: 6.01
FGF3-Gene: 11q13.3, chr11: 69624976, CNV: 6.05
42 ESR1 mutation ESR1-Gene: Exon 9, chr6: 152419919, c.1606_1608delCTCinsAAA (NM_001122740.1), p.Leu536Lys fulvestrant + CDK4/6 inhibitors not implemented
43 CCND1 and FGF19 amplifications; AKT1 mutation CCND1-Gene: 11q13.3, chr11: 69455972, CNV: 9.13

  1. IPATunity130 trial (NCT03337724)

  2. mTOR inhibitor

 not implemented
FGF19-Gene: 11q13.3, chr11: 69513954, CNV: 9.99
AKT1-Gene: chr14:105246551, Exon 3, c.49G > A (NM_001014431.1), p.Glu17Lys
44 PIK3CA and TP53 mutations PIK3CA-Gene: chr3: 178952085, Exon 21, c.3140A > G (NM_006218.3), p.HIS1047Arg alpelisib implemented
TP53-Gene: chr17: 7577538, Exon 7, c.743G > A (NM_000546.5), p.Arg248Gln
45 CCND1 and FGFR1 amplifications External analysis

  1. everolimus + hormone therapy

  2. dovitinib

 not implemented
46 PIK3CA and ERBB2 mutations; ERBB2 high expression PIK3CA-Gene: chr3: 178927980, Exon 8, c.1258T > C (NM_006218.3), p.Cys420Arg

  1. dual HER2 inhibitors

  2. Neratinib

 implemented
ERBB2-Gene: chr17: 37881000, Exon 20, c.2329G > T (NM_004448.3), p.Val777Leu
47 FGFR1 amplification FGFR1-Gene: 8p11.23p11.22, chr8: 38271444, CNV: 6.61 everolimus + hormone therapy implemented
48 CCND1 amplification CCND1-Gene: 11q13.3, chr11: 69456942, CNV: 5.48 exemestane + everolimus not implemented
49 CCND1 and FGFR1 amplifications CCND1-Gene: 11q13.3, chr11: 69456941, CNV: 20.18

  1. exemestane + everolimus

  2. trial (NCT03517956)

 implemented
FGFR1-Gene: 8p11.23p11.22, chr8: 38271444, CNV: 28.5