Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Monalisa Dmello, M.B,B.S., M.D. [2]
Overview
Causes of endometrial cancer include genetic mutations of the KRAS gene, TP53 gene, TP16 gene, and/or PTEN gene. Other genetic mutations have also been described.
Causes
Endometrial cancer arises following multiple genetic mutations. The following genes are involved in the development of endometrial cancer:
Mutations found in Type I and Type II endometrial cancers[1]
| Gene mutated
|
Mutation type
|
Type I prevalence
|
Type II prevalence
|
| ARID1A
|
point mutation
|
40%
|
unknown
|
| CTNNB1
|
point mutation
|
14–44%
|
unknown
|
| FGFR2
|
point mutation
|
16%
|
unknown
|
| KRAS
|
point mutation
|
10–20%
|
unknown
|
| PIK3R1
|
point mutation
|
43%
|
unknown
|
| TP53
|
point mutation
|
10–20%
|
90%
|
| PTEN
|
point mutation
|
37–61%
|
unknown
|
| MLH1
|
epigenetic silencing
|
30%
|
unknown
|
| RASSF1A
|
epigenetic silencing
|
48%
|
unknown
|
| SPRY2
|
epigenetic silencing
|
20%
|
unknown
|
| PPP2R1A
|
point mutation
|
unknown
|
17–41%
|
| CDH1
|
loss of heterozygosity
|
unknown
|
80–90%
|
| CDKN2A
|
loss of heterozygosity and/or
epigenetic silencing
|
20%
|
40%
|
| PIK3CA (oncogene)
|
amplification
|
24–39%
|
20–30%
|
| PIK3R1 (oncogene)
|
point mutation
|
unknown
|
12%
|
| STK15 (oncogene)
|
amplification
|
unknown
|
60%
|
| CCNE1 (oncogene)
|
amplification
|
unknown
|
55%
|
| ERBB2 (oncogene)
|
amplification
|
unknown
|
30%
|
| CCND1 (oncogene)
|
amplification
|
unknown
|
26%
|
|
References
- ↑ International Agency for Research on Cancer (2014). World Cancer Report 2014. World Health Organization. Chapter 5.12. ISBN 978-92-832-0429-9.
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