Cowden syndrome pathophysiology: Difference between revisions

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__NOTOC__
__NOTOC__
{{Cowden syndrome}}
{{CMG}}; {{AE}} {{VKG}}


{{CMG}}; {{AE}} {{VKG}}
==Overview==
==Overview==
The exact pathogenesis of [disease name] is not fully understood.
It is thought that [[cowden syndrome]] is the result caused by [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]] [[Mutation|mutations]]. [[Cowden syndrome]] follows [[autosomal dominant]] pattern of [[inheritance]].
 
OR
 
It is thought that [[cowden syndrome]] is the result caused by [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]])'' [[gene]] [[Mutation|mutations]]. Cowden syndrome follows [[autosomal dominant]] pattern of inheritance.
 
OR
 
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
 
OR
 
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
 
OR
 
 
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
 
OR
 
The progression to [disease name] usually involves the [molecular pathway].
 
OR
 
The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Pathophysiology==
==Pathophysiology==
Line 45: Line 21:
** [[Angiogenesis]] and  
** [[Angiogenesis]] and  
** [[Cell]] [[polarity]]
** [[Cell]] [[polarity]]
*
*
===Pathogenesis===
*The exact pathogenesis of [disease name] is not completely understood.
OR
*It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
*[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
*Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
*[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
*The progression to [disease name] usually involves the [molecular pathway].
*The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Genetics==
==Genetics==
Line 62: Line 26:
=== Pathogenesis ===
=== Pathogenesis ===
* [[Cowden syndrome]] is transmitted in [[autosomal dominant]] pattern.<ref name="Eng2000">{{cite journal|last1=Eng|first1=C.|title=Will the real Cowden syndrome please stand up: revised diagnostic criteria|journal=Journal of Medical Genetics|volume=37|issue=11|year=2000|pages=828–830|issn=14686244|doi=10.1136/jmg.37.11.828}}</ref>
* [[Cowden syndrome]] is transmitted in [[autosomal dominant]] pattern.<ref name="Eng2000">{{cite journal|last1=Eng|first1=C.|title=Will the real Cowden syndrome please stand up: revised diagnostic criteria|journal=Journal of Medical Genetics|volume=37|issue=11|year=2000|pages=828–830|issn=14686244|doi=10.1136/jmg.37.11.828}}</ref>
*<nowiki/>[[Genes]] involved in the [[pathogenesis]] of [[cowden syndrome]]<nowiki/> include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref>
*<nowiki/>[[Genes]] involved in the [[pathogenesis]] of [[cowden syndrome]]<nowiki/> include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref>
* [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]], and <nowiki/>[[Somatic mutation|somatic mutations]]  
* [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]], and <nowiki/>[[Somatic mutation|somatic mutations]]  
* [[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important role in the following:<ref name="pmid15254063">{{cite journal |vauthors=Sansal I, Sellers WR |title=The biology and clinical relevance of the PTEN tumor suppressor pathway |journal=J. Clin. Oncol. |volume=22 |issue=14 |pages=2954–63 |date=July 2004 |pmid=15254063 |doi=10.1200/JCO.2004.02.141 |url=}}</ref><ref name="pmid19177005">{{cite journal |vauthors=Krymskaya VP, Goncharova EA |title=PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects |journal=Cell Cycle |volume=8 |issue=3 |pages=403–13 |date=February 2009 |pmid=19177005 |doi=10.4161/cc.8.3.7555 |url=}}</ref><ref name="pmid86730883">{{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>
* [[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important role in the following:<ref name="pmid15254063">{{cite journal |vauthors=Sansal I, Sellers WR |title=The biology and clinical relevance of the PTEN tumor suppressor pathway |journal=J. Clin. Oncol. |volume=22 |issue=14 |pages=2954–63 |date=July 2004 |pmid=15254063 |doi=10.1200/JCO.2004.02.141 |url=}}</ref><ref name="pmid19177005">{{cite journal |vauthors=Krymskaya VP, Goncharova EA |title=PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects |journal=Cell Cycle |volume=8 |issue=3 |pages=403–13 |date=February 2009 |pmid=19177005 |doi=10.4161/cc.8.3.7555 |url=}}</ref><ref name="pmid86730883">{{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>
** <nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and
** <nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and
Line 75: Line 37:
** [[Apoptosis]]  
** [[Apoptosis]]  
* Other [[gene]] [[mutations]] involved in the [[pathogenesis]] of [[cowden syndrome]] include:
* Other [[gene]] [[mutations]] involved in the [[pathogenesis]] of [[cowden syndrome]] include:
** ''KLLN'' (KILLIN) [[gene]] [[mutation]]<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]] hyper[[methylation]] of the [[promoter region]] <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>  
** [[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>  
** [[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>  
** ''[[PIK3C2A|PIK3CA]] [[gene]] [[mutation]]''  
** ''[[PIK3C2A|PIK3CA]] [[gene]] [[mutation]]''<ref name="pmid23246288">{{cite journal |vauthors=Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C |title=Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes |journal=Am. J. Hum. Genet. |volume=92 |issue=1 |pages=76–80 |date=January 2013 |pmid=23246288 |pmc=3542473 |doi=10.1016/j.ajhg.2012.10.021 |url=}}</ref>
** ''[[AKT1]] [[gene]] [[mutation]]''  
** ''[[AKT1]] [[gene]] [[mutation]]''  
** ''[[SEC23B]]'' [[gene]] [[mutation]]  
** ''[[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>
** [[Epidermal growth factor receptor]] (''[[EGFR]]'') [[gene]] [[mutation]]
** [[Epidermal growth factor receptor]] (''[[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>
****
 
*


==Associated Conditions==
==Associated Conditions==
Conditions associated with [disease name] include:
Conditions associated with [[cowden syndrome]] include:<ref name="pmid22252256">{{cite journal |vauthors=Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C |title=Lifetime cancer risks in individuals with germline PTEN mutations |journal=Clin. Cancer Res. |volume=18 |issue=2 |pages=400–7 |date=January 2012 |pmid=22252256 |pmc=3261579 |doi=10.1158/1078-0432.CCR-11-2283 |url=}}</ref><ref name="pmid23335809">{{cite journal |vauthors=Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F |title=High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome |journal=J. Med. Genet. |volume=50 |issue=4 |pages=255–63 |date=April 2013 |pmid=23335809 |doi=10.1136/jmedgenet-2012-101339 |url=}}</ref><ref name="pmid24037976">{{cite journal |vauthors=Mester JL, Moore RA, Eng C |title=PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? |journal=Oncologist |volume=18 |issue=10 |pages=1083–90 |date=2013 |pmid=24037976 |pmc=3805149 |doi=10.1634/theoncologist.2013-0174 |url=}}</ref>


*[Condition 1]
*[[Breast cancer]]- 85% increases the risk 
*[Condition 2]
*[[Thyroid cancer]]- 35% increases the risk 
*[Condition 3]
*[[Endometrial cancer]]- 28% increases the risk 
*[[Colorectal cancer]]- 9% increases the risk 
*[[Kidney cancer]]- 35% increases the risk 
*[[Melanoma]]- 6% increases the risk 
*[[Bannayan-Riley-Ruvalcaba syndrome]]


==Gross Pathology==
==Gross Pathology==
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
On [[gross]] [[pathology]], [[thyroid]] in [[cowden syndrome]] shows the following features: <ref name="Cameselle-TeijeiroFachal2015">{{cite journal|last1=Cameselle-Teijeiro|first1=José|last2=Fachal|first2=Carmen|last3=Cabezas-Agrícola|first3=José M.|last4=Alfonsín-Barreiro|first4=Natividad|last5=Abdulkader|first5=Ihab|last6=Vega-Gliemmo|first6=Ana|last7=Hermo|first7=José Antonio|title=Thyroid Pathology Findings in Cowden Syndrome|journal=American Journal of Clinical Pathology|volume=144|issue=2|year=2015|pages=322–328|issn=0002-9173|doi=10.1309/AJCP84INGJUVTBME}}</ref>
* Scattered foci of [[adipose tissue]]
* [[Lymphocytic thyroiditis]]


==Microscopic Pathology==
==Microscopic Pathology==
On [[microscopic]] [[histopathological]] analysis, non [[Dysplasia|dysplastic]] [[epithelium]], dilated [[glands]], expanded [[stroma]] are characteristic findings of [[colon polyps]] in [[cowden syndrome]].
* On [[microscopic]] [[histopathological]] analysis, non [[Dysplasia|dysplastic]] [[epithelium]], dilated [[glands]], expanded [[stroma]] are characteristic findings of [[colon polyps]] in [[cowden syndrome]].<ref name="pmid22654876">{{cite journal |vauthors=Son EJ, Nosé V |title=Familial follicular cell-derived thyroid carcinoma |journal=Front Endocrinol (Lausanne) |volume=3 |issue= |pages=61 |date=2012 |pmid=22654876 |pmc=3356064 |doi=10.3389/fendo.2012.00061 |url=}}</ref><ref name="pmid18948764">{{cite journal |vauthors=Dotto J, Nosé V |title=Familial thyroid carcinoma: a diagnostic algorithm |journal=Adv Anat Pathol |volume=15 |issue=6 |pages=332–49 |date=November 2008 |pmid=18948764 |doi=10.1097/PAP.0b013e31818a64af |url=}}</ref>
* On [[microscopic]] [[histopathological]] analysis, C-cell [[hyperplasia]], yellow-tan, lack gelatinous [[colloid]], small [[Follicle|follicles]] and positivity in the [[endothelial cells]] found in [[thyroid]] [[pathology]] in [[cowden syndrome]].<ref name="pmid21921783">{{cite journal |vauthors=Barletta JA, Bellizzi AM, Hornick JL |title=Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome |journal=Am. J. Surg. Pathol. |volume=35 |issue=10 |pages=1505–11 |date=October 2011 |pmid=21921783 |doi=10.1097/PAS.0b013e31822fbc7d |url=}}</ref><ref name="pmid21455198">{{cite journal |vauthors=Nosé V |title=Familial thyroid cancer: a review |journal=Mod. Pathol. |volume=24 Suppl 2 |issue= |pages=S19–33 |date=April 2011 |pmid=21455198 |doi=10.1038/modpathol.2010.147 |url=}}</ref><ref name="pmid226548762">{{cite journal |vauthors=Son EJ, Nosé V |title=Familial follicular cell-derived thyroid carcinoma |journal=Front Endocrinol (Lausanne) |volume=3 |issue= |pages=61 |date=2012 |pmid=22654876 |pmc=3356064 |doi=10.3389/fendo.2012.00061 |url=}}</ref>
[[File:Immunohistochemistry in thyroid pathology.jpg|alt=Thyroid pathology|center|thumb|'''Thyroid pathology- Positive  endothelial cells''', Case courtesy Eun Ju Son Et Al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356064/|title=Immunohistochemistry for PTEN|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]


==References==
==References==

Latest revision as of 19:40, 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

It is thought that cowden syndrome is the result caused by phosphatase and tensin homolog (PTEN) gene mutations. Cowden syndrome follows autosomal dominant pattern of inheritance.

Pathophysiology

Physiology

The normal physiology of PTEN gene can be understood as follows:

Genetics

Pathogenesis

Associated Conditions

Conditions associated with cowden syndrome include:[17][18][19]

Gross Pathology

On gross pathology, thyroid in cowden syndrome shows the following features: [20]

Microscopic Pathology

Thyroid pathology
Thyroid pathology- Positive endothelial cells, Case courtesy Eun Ju Son Et Al [26]

References

  1. ↑ 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.
  2. ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
  3. ↑ Eng, C. (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". Journal of Medical Genetics. 37 (11): 828–830. doi:10.1136/jmg.37.11.828. ISSN 1468-6244.
  4. ↑ Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.
  5. ↑ Sansal I, Sellers WR (July 2004). "The biology and clinical relevance of the PTEN tumor suppressor pathway". J. Clin. Oncol. 22 (14): 2954–63. doi:10.1200/JCO.2004.02.141. PMID 15254063.
  6. ↑ Krymskaya VP, Goncharova EA (February 2009). "PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects". Cell Cycle. 8 (3): 403–13. doi:10.4161/cc.8.3.7555. PMID 19177005.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C (January 2013). "Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes". Am. J. Hum. Genet. 92 (1): 76–80. doi:10.1016/j.ajhg.2012.10.021. PMC 3542473. PMID 23246288.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C (January 2012). "Lifetime cancer risks in individuals with germline PTEN mutations". Clin. Cancer Res. 18 (2): 400–7. doi:10.1158/1078-0432.CCR-11-2283. PMC 3261579. PMID 22252256.
  18. ↑ Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F (April 2013). "High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome". J. Med. Genet. 50 (4): 255–63. doi:10.1136/jmedgenet-2012-101339. PMID 23335809.
  19. ↑ Mester JL, Moore RA, Eng C (2013). "PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?". Oncologist. 18 (10): 1083–90. doi:10.1634/theoncologist.2013-0174. PMC 3805149. PMID 24037976.
  20. ↑ Cameselle-Teijeiro, José; Fachal, Carmen; Cabezas-Agrícola, José M.; Alfonsín-Barreiro, Natividad; Abdulkader, Ihab; Vega-Gliemmo, Ana; Hermo, José Antonio (2015). "Thyroid Pathology Findings in Cowden Syndrome". American Journal of Clinical Pathology. 144 (2): 322–328. doi:10.1309/AJCP84INGJUVTBME. ISSN 0002-9173.
  21. ↑ Son EJ, Nosé V (2012). "Familial follicular cell-derived thyroid carcinoma". Front Endocrinol (Lausanne). 3: 61. doi:10.3389/fendo.2012.00061. PMC 3356064. PMID 22654876.
  22. ↑ Dotto J, Nosé V (November 2008). "Familial thyroid carcinoma: a diagnostic algorithm". Adv Anat Pathol. 15 (6): 332–49. doi:10.1097/PAP.0b013e31818a64af. PMID 18948764.
  23. ↑ Barletta JA, Bellizzi AM, Hornick JL (October 2011). "Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome". Am. J. Surg. Pathol. 35 (10): 1505–11. doi:10.1097/PAS.0b013e31822fbc7d. PMID 21921783.
  24. ↑ Nosé V (April 2011). "Familial thyroid cancer: a review". Mod. Pathol. 24 Suppl 2: S19–33. doi:10.1038/modpathol.2010.147. PMID 21455198.
  25. ↑ Son EJ, Nosé V (2012). "Familial follicular cell-derived thyroid carcinoma". Front Endocrinol (Lausanne). 3: 61. doi:10.3389/fendo.2012.00061. PMC 3356064. PMID 22654876.
  26. ↑ "Immunohistochemistry for PTEN".

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