Breast Cancer whole genome sequences-Nature May 2016

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RESEARCH
ARTICLE
A
chr17 position (Mb)
34 36 38 40 42
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Copy number
120
60
0
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Copy number
log 10
intermutation distance
120
60
0
6
5
4
3
2
1
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36.6 36.8 37.0 37.2 37.4 37.6 37.8
chr17 position (Mb)
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C>A
C>G
C>T
T>A
T>C
T>G
B
2500
kataegis signature
1,543 foci
16,793 base substitutions
0
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
10
alternative kataegis signature
14 foci
109 base substitutions
0
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ACA
ACC
ACG
ACT
CCA
CCC
CCG
CCT
GCA
GCC
GCG
GCT
TCA
TCC
TCG
TCT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
ATA
ATC
ATG
ATT
CTA
CTC
CTG
CTT
GTA
GTC
GTG
GTT
TTA
TTC
TTG
TTT
Extended Data Figure 10 | Signatures of focal hypermutation.
a, Kataegis and alternative kataegis occurring at the same locus (ERBB2
amplicon in PD13164a). Copy number (y axis) depicted as black dots.
Lines represent rearrangements breakpoints (green, tandem duplications;
pink, deletions; blue, inversions). Top, an ~10 Mb region including
the ERBB2 locus. Middle, zoomed-in tenfold to an ~1 Mb window
highlighting co-occurrence of rearrangement breakpoints, with copy
number changes and three different kataegis loci. Bottom, demonstrates
kataegis loci in more detail. log 10 intermutation distance on y axis. Black
arrow, kataegis; blue arrows, alternative kataegis. b, Sequence context of
kataegis and alternative kataegis identified in this data set.
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