Skip to main content

Table 4 Selection of gene mutations identified by WES

From: Comprehensive molecular biomarker identification in breast cancer brain metastases

Jed81_MT1,2 Jed82_MT1,2 Jed89_MT1,2 Gene Read depth Consequence HGVSc3 HGVSp4
he    ANLN 11 Inframe insertion NM_018685.2:c.881_884delCTTCinsCTTCTTC NM_018685.2:c.881_884delCTTCinsCTTCTTC
he    BCL9L 19 Missense NM_182557.2:c.1276G > C NP_872363.1:p.Glu426Gln
  he ho CASP7 18 Frameshift NM_001267057.1:c.128_130delTTTinsT NP_001253986.1:p.Leu44SerfsTer70
he    CDH1 26 Missense NM_004360.3:c.1198G > C NP_004351.1:p.Asp400His
   he CDH9 33 Missense NM_016279.3:c.643G > T NP_057363.3:p.Gly215Cys
  he   CDH10 128 Missense NM_006727.3:c.1708G > C NP_006718.2:p.Asp570His
ho ho ho CYFIP2 12, 26, 16 Frameshift NM_001037333.1:c.280_281delCCinsCCC NP_001032410.1:p.Gln95ProfsTer15
he    DAPK1 19 Missense NM_004938.2:c.3090G > T NP_004929.2:p.Gln1030His
  he   E2F7 16 Missense NM_203394.2:c.1292C > T NP_976328.2:p.Pro431Leu
  he   ERRB4 24 Missense NM_005235.2:c.257A > T NP_005226.1:p.Tyr86Phe
   he ERRB4 31 Missense NM_005235.2:c.2621A > T NP_005226.1:p.Glu874Val
  he   FLT3 14 Missense NM_004119.2:c.2957C > T NP_004110.2:p.Pro986Leu
   ho FOXD4 50 Frameshift NM_207305.4:c.1264_1271delGTTTTTTTinsGTTTTTTTT NP_997188.2:p.Leu424PhefsTer59
   ho FOXD4 13 Frameshift NM_207305.4:c.755_756delGGinsGGG NP_997188.2:p.Arg253GlufsTer230
   he FOXD4L1 74 Frameshift NM_012184.4:c.763_764delGGinsGGG NP_036316.1:p.Arg256GlufsTer72
   ho HEPACAM 24 Stop gained NM_152722.4:c.298C > T NP_689935.2:p.Arg100Ter
  he   IDH3G 15 Frameshift NM_004135.3:c.562_563delAGinsA NP_004126.1:p.Ser188ThrfsTer2
he    LOXHD1 27 Missense NM_144612.6:c.3124G > A NP_653213.6:p.Val1042Ile
he    MAP4K3 29 Stop gained, splice region NM_003618.3:c.2539G > T NP_003609.2:p.Glu847Ter
ho ho   MMP12 27, 19 Frameshift NM_002426.4:c.630_631delCAinsAAA NP_002417.2:p.Thr211AsnfsTer261
he   he PIK3C2G 24, 14 Inframe deletion NM_004570.4:c.384_387delCCCCinsC NP_004561.3:p.Pro129del
   he PPARG 38 Missense NM_015869.4:c.1360C > A NP_056953.2:p.Pro454Thr
   he RAD54B 131 Frameshift NM_012415.3:c.2732_2733delAGinsA NP_036547.1:p.Ter911TyrfsTer16
   he RASGRP3 20 Missense NM_170672.2:c.492G > T NP_733772.1:p.Glu164Asp
  1. 1he, heterozygous mutation; 2 ho, homozygous mutation; 3 HGVSc, Human Genome Variation Society notation in the cDNA; 4 HGVSp, Human Genome Variation Society notation in the protein