Breast Cancer whole genome sequences-Nature May 2016

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RESEARCH
ARTICLE
A
PD13425a: ER positive
ESR1
4
16
B
70
60
50
40
30
20
10
0
●● ●
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● ●
● ●●●●● ● ●●●● ●● ●
ETV6
1 2 3 4 5 6 7 8
NT-Pointed
domain
Central domain ETS
145 150 155 160
chr6 position (Mb)
1 2 3 4 5 6 7 8
3
PD7243a: ER positive
ESR1
PD24202a
1 2 3 4 5 6 7 8
PD4980a 1 2 3 4 5 6 7 8
6
PD13297a
PD23574a
1 2 3 4 5 6 7 8
3
5
4
3
2
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PD7069a
ERC C
Deletion
NT-Pointed
domain
Central domain
ETS
1
0
PD4953a: ER positive
145 150 155 160
chr6 position (Mb)
ESR1
PD7069a
PD6729a2
PD8982a
WNK1
Tandem
duplication n
NT-Pointed
domain
NT-Pointed
domain
NT-Pointed
domain
Central domain
Central domain
Inversion
Central domain
ETS
ETS
Inversion
ETS
ATP2B1
LRP6
4
3
2
1
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0
145 150 155 160
chr6 position (Mb)
Extended Data Figure 2 | Rearrangements in oncogenes. a, Variation
in rearrangement and copy number events affecting ESR1. Clear
amplification in top panel, transection of ESR1 in middle panel and
focused tandem duplication events in bottom panel. b, Predicted outcomes
of some rearrangements affecting ETV6. Red crosses indicate exons
deleted as a result of rearrangements within the ETV6 genes, black dotted
lines indicate rearrangement break points resulting in fusions between
ETV6 and ERC, WNK1, ATP2B1 or LRP6. ETV6 domains indicated are:
N-terminal (NT) pointed domain and E26 transformation-specific DNA
binding domain (ETS).
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