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Table 1 List of the germline and somatic genomic alterations in these genetic tests

From: Response to olaparib in metastatic castration-resistant prostate cancer with germline BRCA2 mutation: a case report

Type

Gene

Start

End

Ref

Alt

Function

NC change

AA change

AF

First genetic test

 Germline

BRCA2

chr13:32913773

chr13:32913773

G

T

stop-gained

c.G5281T

p.G1761X

N/A

 Mutant

PIK3CA

chr3:178936094

chr3:178936094

C

A

missense-variant

c.C1636A

p.Q546K

17%

Second genetic test

 Germline

BRCA2

chr13:32913773

chr13:32913773

G

T

stop-gained

c.G5281T

p.G1761X

N/A

 Mutant

PIK3CA

chr3:178936094

chr3:178936094

C

A

missense-variant

c.C1636A

p.Q546K

0.4%

Third genetic test

 Germline

BRCA2

chr13:32913773

chr13:32913773

G

T

stop-gained

c.G5281T

p.G1761X

N/A

 Mutant

PIK3CA

chr3:178936094

chr3:178936094

C

A

missense-variant

c.C1636A

p.Q546K

19.9%

 Mutant

NKX2–1

chr14:36987087

chr14:36987087

G

A

missense-variant

c.C512T

p.A171V

7.1%

 Mutant

ERBB4

chr2:212587159

chr2:212587159

G

C

missense-variant

c.C842G

p.A281G

19.6%

 Mutant

RUNX1

chr21:36164438

chr21:36164467

GGGCCTCCACACGGCCTCCTCCAGGCGCGC

inframe-deletion

c.1408_1437delGCGCGCCTGGAGGAGGCCGTGTGGAGGCCC

p.470-479del

17.6%

 Mutant

NF1

chr17:29496949

chr17:29496949

G

A

missense-variant

c.G520A

p.V174I

16.6%

 Mutant

MET

chr7:116412084

chr7:116412084

T

C

intron-variant

c.T3082 + 41C

N/A

6.1%

 Mutant

FGFR4

chr5:176520737

chr5:176520737

C

A

missense-variant

c.C1480A

p.P494T

1.5%

 Mutant

TET2

chr4:106157937

chr4:106157937

T

frameshift-variant

c.2838delT

p.T946 fs

0.2%

 Mutant

TET2

chr4:106157939

chr4:106157939

A

C

missense-variant

c.A2840C

p.Q947P

0.2%

  1. chr chromosome, Ref reference, Alt alternative, N/A not applicable, NC change nucleotide change, AA change amino acid change, AF allele frequency