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Table 3 NGS results, TP53 mutations

From: Morphologic and molecular study of lung cancers associated with idiopathic pulmonary fibrosis and other pulmonary fibroses

Gene

 

Mutation

 

COSMIC reference

Pathogenicity prediction

Patient

Allelic frequency

% tum cells

Lung disease

Cancer

TP53

Chr17:g.7579383T > G

c.304A > C

p.Thr102Pro

/

benign

P09

11.0

NS

IPF

ADC

Chr17:g.7578461C > A

c.469G > T

p.Val157Phe

COSM10670

pathogenic

P18

54.0

70

CTD-ILD

SCC

Chr17:g.7578457C > A

c.473G > T

p.Arg158Leu

COSM10714

pathogenic

P20

27.8

40

CTD-ILD

ADC

Chr17:g.7578454G > A

c.476C > T

p.Ala159Val

COSM11148

pathogenic

P15

44

NS

IPF

ADS

Chr17:g.7578406C > T

c.524G > A

p.Arg175His

COSM10648

pathogenic

P21

42.2

70

CTD-ILD

ADC

Chr17:g.7578388C > G

c.542G > C

p.Arg181Pro

COSM45046

pathogenic

P09

22.1

NS

IPF

ADC

Chr17:g.7578272G > T

c.577C > A

p.His193Asn

COSM43935

pathogenic

P03-ADC

59.3

70

IPF

ADC

Chr17:g.7578272G > A

c.577C > T

p.His193Tyr

COSM10672

pathogenic

P01

22.4

50

IPF

SCC

Chr17:g.7577574T > C

c.707A > G

p.Tyr236Cys

COSM10731

pathogenic

P30

84.0

70

IPF

SmCC

Chr17:g.7577559G > A

c.722C > T

p.Ser241Phe

COSM10812

pathogenic

P27

16.4

20

pneumoconiosis

ADC

Chr17:g.7577559G > A

c.722C > T

p.Ser241Phe

COSM10812

pathogenic

P29

84.7

>50

pneumoconiosis

SmCC

Chr17:g.7577539G > A

c.742C > T

p.Arg248Trp

COSM10656

pathogenic

P11

42.8

70

IPF

ADC

Chr17:g.7577535C > A

c.746G > T

p.Arg249Met

COSM43871

pathogenic

P08

28.9

40

IPF

SCC

Chr17:g.7577535C > A

c.746G > T

p.Arg249Met

COSM43871

pathogenic

P24

61.0

70

CTD-ILD

ADS

Chr17:g.7577120C > A

c.818G > T

p.Arg273Leu

COSM10779

pathogenic

P16

68.1

40

IPF

LCNEC

Chr17:g.7577115dup

c.823dup

p.Cys275Leufs*31

/

pathogenic

P04

16.2

25

IPF

SCC

Chr17:g.7577108C > A

c.830G > T

p.Cys277Phe

COSM10749

pathogenic

P02

42.5

40

IPF

SCC

Chr17:g.7577096_7577099del

c.839_842del

p.Arg280Thrfs*64

/

pathogenic

P05

63.6

30

IPF

SCC

Chr17:g.7577046C > A

c.892G > T

p.Glu298*

COSM10710

pathogenic

P19

65.1

40

pneumoconiosis

SCC

Chr17:g.7573976T > A

c.1051A > T

p.Lys351*

COSM1522202

pathogenic

P17

61.1

90

pneumoconiosis

SCC

  1. ADC adenocarcinoma, ADS adenosquamous carcinoma, CTD-ILD connective tissue disease associated-interstitial lung disease, IPF idiopathic pulmonary fibrosis, LCNEC large cell neuro-endocrine carcinoma, NSIP non-specific interstitial pneumonia, SCC squamous cell carcinoma, SmCC small cell carcinoma
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Respiratory Research

ISSN: 1465-993X

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