Comprehensive molecular biomarker identification in breast cancer brain metastases

Schulten, Hans-Juergen; Bangash, Mohammed; Karim, Sajjad; Dallol, Ashraf; Hussein, Deema; Merdad, Adnan; Al-Thoubaity, Fatma K.; Al-Maghrabi, Jaudah; Jamal, Awatif; Al-Ghamdi, Fahad; Choudhry, Hani; Baeesa, Saleh S.; Chaudhary, Adeel G.; Al-Qahtani, Mohammed H.

doi:10.1186/s12967-017-1370-x

Journal of Translational Medicine

Table 4 Selection of gene mutations identified by WES

From: Comprehensive molecular biomarker identification in breast cancer brain metastases

Jed81_MT^1,2	Jed82_MT^1,2	Jed89_MT^1,2	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

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

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ISSN: 1479-5876

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