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Table 1 Potential driver genetic alterations in both HER2-negative and HER2-positive components of HER2 heterogeneous breast cancers, and in the HER2-negative components only

From: Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification

Sample ID

Potential driver mutations present in both HER2-negative and HER2-positive components

Potential driver mutations restricted to the HER2-negative component

Potential drivers within regions whose amplification was restricted to the HER2-negative component

T1

TP53 (P152L)

 

FAM83A, MDM4

T2

NP

NP

BRF2, FGFR1, ZNF703, RAB11FIP1, LSM1, DDHD2, WHSC1L1, PPAPDC1B, EEF1A2, ERLIN2, BAG4

T3

TP53 (E258D)

ATRX (splice site dinucleotide substitution)

YWHAZ, MYC, FAM83A

T4

ARID1A (R1446*)

 

BRF2, ZNF703, RAB11FIP1, ERLIN2

T5

TP53 (E286D)

NP

IKBKB, CAMK1D

T6

TP53 (R273H), PIK3CA (H1047R)

HER2 (I767M), ETV5 (E60K)

PHGDH

T8

PIK3CA (H1047R), CBFB (splice site)

BRAF (P403S), XRCC1 (S236F)

 

T9

TP53 (R282G), PIK3CA (H1047R), MAP2K4 (R110G), MED12 (R2015M)

 

LMX1B

T10

TP53 (S94fs)

NP

CBX3, RAD21

T11

TP53 (G187_E192delLAPPQ)

NRP1 (R767H)

MYC, RAD21

T12

TP53 (T195N), KIT (A755T)

FANCD2 (L1394F)

DSN1

T13

TP53 (S240I)

NP

PIK3CA

  1. NP, massively parallel sequencing not performed due to lack of DNA of sufficient quantity and/or quality.