Endometrial cancer causes: Difference between revisions

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==Overview==
==Overview==
There are both genetic and environmental causes of endometrial carcinoma. Some of the genetic causes are Hereditary nonpolyposis colon cancer (HNPCC) syndrome and Cowden syndrome.The sporadic colorectal cancers develop from environmental causes.
Causes of endometrial cancer include genetic mutations of the ''[[KRAS]]'' gene, ''[[TP53]]'' gene, ''[[P16 (gene)|TP16]]'' gene, and/or ''[[PTEN]]'' gene. Other genetic mutations have also been described.


==Causes==  
==Causes==
Overall, genetic causes contribute to 2–10% of endometrial cancer cases.<ref name="pmid24098868">{{cite journal| author=Reinbolt RE, Hays JL| title=The Role of PARP Inhibitors in the Treatment of Gynecologic Malignancies. | journal=Front Oncol | year= 2013 | volume= 3 | issue=  | pages= 237 | pmid=24098868 | doi=10.3389/fonc.2013.00237 | pmc=PMC3787651 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24098868  }} </ref>
Endometrial cancer arises following multiple genetic mutations. The following genes are involved in the development of endometrial cancer:
:* Lynch syndrome (Hereditary nonpolyposis colon cancer (HNPCC) syndrome)
{| <!--Placing these in a table with no border will keep them together/aligned in any browser-->
[[Lynch syndrome]], an [[autosomal dominant]] genetic disorder that mainly causes [[colorectal cancer]], also causes endometrial cancer, especially before menopause. Women with Lynch syndrome have a 40–60%&nbsp;risk of developing endometrial cancer, higher than their risk of developing colorectal (bowel) or ovarian cancer.<ref>{{cite book | last = Hoffman | first = Barbara | title = Williams gynecology | publisher = McGraw-Hill Medical | location = New York | year = 2012 | isbn = 9780071716727. }}</ref> Ovarian and endometrial cancer develop simultaneously in 20% of people. Endometrial cancer nearly always develops before colon cancer, on average, 11&nbsp;years before.<ref name=Ma>{{cite journal |last1=Ma |first1=J |last2=Ledbetter |first2=N |last3=Glenn |first3=L |year=2013 |title=Testing women with endometrial cancer for lynch syndrome: should we test all? |journal=Journal of the Advanced Practitioner in Oncology |volume=4 |issue=5 |pages=322–30 |doi= |pmid=25032011 |pmc=4093445}}</ref> [[Carcinogenesis]] in Lynch syndrome comes from a mutation in ''[[MLH1]]'' and/or ''MLH2'': genes that participate in the process of [[mismatch repair]], which allows a cell to correct mistakes in the DNA.<ref>{{cite book | last = Hoffman | first = Barbara | title = Williams gynecology | publisher = McGraw-Hill Medical | location = New York | year = 2012 | isbn = 9780071716727. }}</ref> Other genes mutated in Lynch syndrome include ''[[MSH2]]'', ''[[MSH6]]'', and ''[[PMS2]]'', which are also mismatch repair genes. Women with Lynch syndrome represent 2–3% of endometrial cancer cases; some sources place this as high as 5%. Depending on the gene mutation, women with Lynch syndrome have different risks of endometrial cancer. With ''[[MLH1]]'' mutations, the risk is 54%; with ''[[MSH2]]'', 21%; and with [[MSH6]], 16%.
|-
:* Cowden syndrome
|
Women with a family history of endometrial cancer are at higher risk. The inherited genetic condition [[Cowden syndrome]] can also cause endometrial cancer. Women with this disorder have a 5–10%&nbsp;lifetime risk of developing endometrial cancer, compared to the 2–3%&nbsp;risk for unaffected women.<ref>Kumar (2009). Robbins and Cotran Pathologic Basis of DiseaseProfessional Edition, 8th ed. Saunders, An Imprint of Elsevier.</ref><ref>{{cite book | last = Cotran | first = Robbins  | title = Pathologic Basis of Disease | publisher = Saunders//Elsevier | location = Jacksonville, FL, U.S.A | year = 2009 | isbn = 978-1-4160-3121-5 }}</ref> Cowden syndrome is associated with mutations in PTEN, a tumor suppressor gene, that cause the PTEN protein not to work properly leading to hyperactivity of themTOR pathway.
{| class="wikitable sortable"
|+Mutations found in Type I and Type II endometrial cancers<ref>International Agency for Research on Cancer (2014). World Cancer Report 2014. World Health Organization. Chapter 5.12. ISBN 978-92-832-0429-9.</ref>  
|-
!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 (gene)|PTEN]]''
|point mutation
|37–61%
|unknown
|-
|''[[MLH1]]''
|[[gene silencing|epigenetic silencing]]
|30%
|unknown
|-
| ''RASSF1A''
|epigenetic silencing
|48%
|unknown
|-
| ''SPRY2''
|epigenetic silencing
|20%
|unknown
|-
| ''PPP2R1A''
|point mutation
|unknown
|17–41%
|-
| ''CDH1 (gene)|CDH1''
|[[loss of heterozygosity]]
|unknown
|80–90%
|-
|''[[p16 (gene)|CDKN2A]]''
|loss of heterozygosity and/or<br />epigenetic silencing
|20%
|40%
|-
| ''PIK3CA'' ([[oncogene]])
|point mutation or amplification (molecular biology)|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==
==References==
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Latest revision as of 22:15, 26 November 2017

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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

  1. ↑ 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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