Cowden syndrome causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Cowden syndrome}} | |||
{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
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==Causes== | ==Causes== | ||
===Common Causes=== | ===Common Genetic Causes=== | ||
Common causes of [[cowden syndrome]] may include: | Common causes of [[cowden syndrome]] may include:<ref name="pmid9778245">{{cite journal |vauthors=Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW |title=Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN |journal=Cell |volume=95 |issue=1 |pages=29–39 |date=October 1998 |pmid=9778245 |doi= |url=}}</ref><ref name="pmid8673088">{{cite journal |vauthors=Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C |title=Localization of the gene for Cowden disease to chromosome 10q22-23 |journal=Nat. Genet. |volume=13 |issue=1 |pages=114–6 |date=May 1996 |pmid=8673088 |doi=10.1038/ng0596-114 |url=}}</ref> | ||
*[[PTEN (gene)|PTEN]] [[gene]] [[mutations]] in a [[gene]] on [[chromosome 10]] | *[[PTEN (gene)|PTEN]] [[gene]] [[mutations]] in a [[gene]] on [[chromosome 10]] | ||
*[[Allele|Allelic]] [[heterogeneity]] is positive in [[cowden syndrome]] | *[[Allele|Allelic]] [[heterogeneity]] is positive in [[cowden syndrome]] | ||
===Less Common Causes=== | ===Less Common Genetic Causes=== | ||
Less common causes of [[cowden syndrome]] include: | Less common causes of [[cowden syndrome]] include:<ref name="pmid21177507">{{cite journal |vauthors=Bennett KL, Mester J, Eng C |title=Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome |journal=JAMA |volume=304 |issue=24 |pages=2724–31 |date=December 2010 |pmid=21177507 |doi=10.1001/jama.2010.1877 |url=}}</ref><ref name="pmid18385383">{{cite journal |vauthors=Cho YJ, Liang P |title=Killin is a p53-regulated nuclear inhibitor of DNA synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=105 |issue=14 |pages=5396–401 |date=April 2008 |pmid=18385383 |pmc=2291080 |doi=10.1073/pnas.0705410105 |url=}}</ref> | ||
*''KLLN'' (KILLIN) [[gene mutation]] | *''KLLN'' (KILLIN) [[gene mutation]] | ||
*[[Succinate dehydrogenase]] (''[[Succinate dehydrogenase|SDH]]'') [[gene mutation]] | *[[Succinate dehydrogenase]] (''[[Succinate dehydrogenase|SDH]]'') [[gene mutation]]<ref name="pmid18678321">{{cite journal |vauthors=Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C |title=Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes |journal=Am. J. Hum. Genet. |volume=83 |issue=2 |pages=261–8 |date=August 2008 |pmid=18678321 |pmc=2495063 |doi=10.1016/j.ajhg.2008.07.011 |url=}}</ref> | ||
*''[[SEC23B]]'' [[gene mutation]]<ref name="pmid26522472">{{cite journal |vauthors=Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C |title=Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer |journal=Am. J. Hum. Genet. |volume=97 |issue=5 |pages=661–76 |date=November 2015 |pmid=26522472 |pmc=4667132 |doi=10.1016/j.ajhg.2015.10.001 |url=}}</ref> | |||
*''[[EGFR]]'' [[gene mutation]]<ref name="pmid27900366">{{cite journal |vauthors=Colby S, Yehia L, Niazi F, Chen J, Ni Y, Mester JL, Eng C |title=Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease |journal=Cold Spring Harb Mol Case Stud |volume=2 |issue=6 |pages=a001230 |date=November 2016 |pmid=27900366 |pmc=5111001 |doi=10.1101/mcs.a001230 |url=}}</ref> | |||
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==References== | ==References== | ||
Latest revision as of 19:45, 25 February 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The most common cause of cowden syndrome is PTEN gene mutations. PTEN hamartoma tumor syndrome (PHTS) which includes a group of many disorders Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Proteus and Proteus-like syndrome (PS).
Causes
Common Genetic Causes
Common causes of cowden syndrome may include:[1][2]
- PTEN gene mutations in a gene on chromosome 10
- Allelic heterogeneity is positive in cowden syndrome
Less Common Genetic Causes
Less common causes of cowden syndrome include:[3][4]
- KLLN (KILLIN) gene mutation
- Succinate dehydrogenase (SDH) gene mutation[5]
- SEC23B gene mutation[6]
- EGFR gene mutation[7]
References
- ↑ Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Bennett KL, Mester J, Eng C (December 2010). "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome". JAMA. 304 (24): 2724–31. doi:10.1001/jama.2010.1877. PMID 21177507.
- ↑ Cho YJ, Liang P (April 2008). "Killin is a p53-regulated nuclear inhibitor of DNA synthesis". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5396–401. doi:10.1073/pnas.0705410105. PMC 2291080. PMID 18385383.
- ↑ Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C (August 2008). "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes". Am. J. Hum. Genet. 83 (2): 261–8. doi:10.1016/j.ajhg.2008.07.011. PMC 2495063. PMID 18678321.
- ↑ Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C (November 2015). "Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer". Am. J. Hum. Genet. 97 (5): 661–76. doi:10.1016/j.ajhg.2015.10.001. PMC 4667132. PMID 26522472.
- ↑ Colby S, Yehia L, Niazi F, Chen J, Ni Y, Mester JL, Eng C (November 2016). "Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease". Cold Spring Harb Mol Case Stud. 2 (6): a001230. doi:10.1101/mcs.a001230. PMC 5111001. PMID 27900366.