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Table 1 Mutations, identified with NGS

From: Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing – a case report

Gene

Location

Mutation type

Ref - > seq

Blood [%]

EmCa [%]

OvCa [%]

Meta [%]

Coding

Amino Acid Change

PhyloP*

SIFT**

Gr***

PPhen-2****

COSMIC

ARID1A

chr1: 27094447

Insertion

A- > AT

0

30

24

0

c.3155_3156insT

p.Arg1053fs

2.16

    

RAF1

chr3: 12641248

Deletion

CA- > C

0

37

30

0

c.1049_1049delT

p.Met350fs

     

CTNNB1

chr3: 41266125

SNV

CCA - > TCA

0

35

31

12

c.122C > T

p.Thr41Ile

2.8 0.86 2.26

0

89

0.996

COSM5730; COSM5701; COSM5676; COSM29289

PIK3CA

chr3: 178936095

SNV

A- > G

0

34

29

10

c.1637A > G

p.Gln546Arg

2.2

0.01

43

0.992

COSM767; COSM12459; COSM25041

ESR1

chr6: 152419923

SNV

A- > G

0

0

0

9

c.1610A > G

p.Tyr537Cys

2.02

0

194

0.998

COSM1074637 COSM1074639

SYNE1

chr6: 152443737

SNV

C- > A

0

41

38

6

c.26228G > T

p.Arg8743Ile

2.62

 

97

  

PIK3CG

chr7: 106524631

SNV

C- > G

0

29

0

0

c.2792C > G

p.Ser931Cys

2.6

0

112

1

 

PTEN

chr10: 89692790

SNV

T- > A

0

0

0

10

c.274G > T

p.Asp92Tyr

2.32

0

160

1

COSM86049; COSM50762; COSM3566

PTEN

chr10: 89692886

SNV

T- > A

0

32

31

0

c.370 T > A

p.Cys124Ser

2.41 1.95

0.16

112

1

COSM5224; COSM5824; COSM1577271; COSM921089

PTEN

chr10: 89692892

SNV

G- > A

0

34

30

0

c.376G > A

p.Ala126Thr

2.41

0.11

58

0.999

COSM5051; COSM5211; COSM28889

PTPRT

chr20: 40710566

SNV

C- > T

0

32

24

0

c.4285G > A

p.Val1429Met

2.88

0

21

1

 

USP9X

chrX: 41057832

SNV

A- > C

0

0

30

0

c.4432A > C

p.Met1478Leu

1.78

0.7

15

0

 
  1. * PhyloP score:• Positive scores -- Measure conservation, which is slower evolution than expected, at sites that are predicted to be conserved; • Negative scores -- Measure acceleration, which is faster evolution than expected, at sites that are predicted to be fast-evolving
  2. ** SIFT score: • 0.0–0.05 - deleterious; • 0.05–1.0 – tolerated
  3. *** Grantham score: Higher Grantham scores are considered more deleterious
  4. ****PolyPhen-2 score: • 0.0–0.15 -- Variants with scores in this range are predicted to be benign; • 0.15–1.0 -- Variants with scores in this range are possibly damaging; • 0.85–1.0 -- Variants with scores in this range are more confidently predicted to be damaging