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Table 3 Somatic mutations in HGSC genesa identified in HGSC samples of patients with endometriosis and HGSC

From: Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis

 

Gene

HGVS codingb

HGVS proteinb

Canonical transcriptc

AFd

COSMIC IDe

HGSC of II-2

TP53

c.826G>C

p.(Ala276Pro)

ENST00000269305.9

0.08

COSM43663

HGSC of II-3

TP53

c.743G>A

p.(Arg248Gln)

ENST00000269305.9

0.8

COSM10662

 

NF1

c.6819+1G>A

NAf

ENST00000358273.9

0.11

COSM5096165

 

CSMD3

c.9151G>T

p.(Asp3051Tyr)

ENST00000297405.10

0.06

NAf

 

CDK12

c.3143G>T

p.(Arg1048Leu)

ENST00000447079.6

0.08

NAf

 

CDK12

c.3375C>A

p.(Ser1125Arg)

ENST00000447079.6

0.08

NAf

 

FAT3

c.1248T>G

p.(Asp416Glu)

ENST00000525166.6

0.06

NAf

 

FAT3

c.10586C>T

p.(Pro3529Leu)

ENST00000525166.6

0.06

NAf

 

FAT3

c.13321C>T

p.(His4441Tyr)

ENST00000525166.6

0.1

NAf

  1. aHGSC genes: Relevant genes in high-grade serous carcinoma (HGSC) according to The Cancer Genome Atlas (TCGA)
  2. bHuman Genome Variation Society
  3. cEnsembl canonical transcript GRCh38.p13 release 108
  4. dAllelic fraction
  5. eCatalogue of Somatic Mutations in Cancer, Legacy mutation ID v98
  6. fNot applicable/not available
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Human Genomics

ISSN: 1479-7364