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Table 1 Critical genetic changes in ovarian clear cell carcinoma

From: From clinical management to personalized medicine: novel therapeutic approaches for ovarian clear cell cancer

Gene

Frequency

Type of alteration

Original function/Pathway affected

Reference

ARID1A

40–57%

Mutation copy number loss

SWI-SNF chromatin remodeling complex

DNA double-strand break (DSB) repair

[16, 19,20,21,22]

SMARCA4

5–18%

Mutation

[20, 23, 24]

ARID1B

6–18%

Mutation

[20, 25]

PI3KCA

 > 50%

Mutation

PI3K-AKT pathway

[19, 26,27,28]

PTEN

5–8.3%

Loss-of-function mutation

[29, 30]

AKT2

8–26%

Amplification

[20, 22, 31]

ZNF217

20–36%

Amplification

[32,33,34]

KRAS

9–20%

Mutation

MAPK pathway

[19, 23, 34]

PPP2R1A

7–15%

Mutation

[19, 25, 35]

ERBB2

2–13%

Mutation and amplification

[22, 24, 26]

MET

24–37%

Amplification

[36, 37]

TP53

8.5–21.6%

Mutation

DNA repair

[24, 38, 39]

BRCA1/2

2.1–6%

Mutaion

[3, 40]

HNF-1β

 > 90%

Hypo-methylation overexpression

Glucose metabolism

[13, 41, 42]