Difference between revisions of "Desmoid-type fibromatosis"

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*Point mutations in the CTNNB1 gene (encodes β-catenin).<ref>{{Cite journal  | last1 = Lazar | first1 = AJ. | last2 = Tuvin | first2 = D. | last3 = Hajibashi | first3 = S. | last4 = Habeeb | first4 = S. | last5 = Bolshakov | first5 = S. | last6 = Mayordomo-Aranda | first6 = E. | last7 = Warneke | first7 = CL. | last8 = Lopez-Terrada | first8 = D. | last9 = Pollock | first9 = RE. | title = Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal = Am J Pathol | volume = 173 | issue = 5 | pages = 1518-27 | month = Nov | year = 2008 | doi = 10.2353/ajpath.2008.080475 | PMID = 18832571 }}</ref>
*Point mutations in the CTNNB1 gene (encodes β-catenin).<ref>{{Cite journal  | last1 = Lazar | first1 = AJ. | last2 = Tuvin | first2 = D. | last3 = Hajibashi | first3 = S. | last4 = Habeeb | first4 = S. | last5 = Bolshakov | first5 = S. | last6 = Mayordomo-Aranda | first6 = E. | last7 = Warneke | first7 = CL. | last8 = Lopez-Terrada | first8 = D. | last9 = Pollock | first9 = RE. | title = Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal = Am J Pathol | volume = 173 | issue = 5 | pages = 1518-27 | month = Nov | year = 2008 | doi = 10.2353/ajpath.2008.080475 | PMID = 18832571 }}</ref>
**~85% of sporadic desmoids
**~85% of sporadic desmoids
**β-catenin is abnormally stable.<ref>{{http://ghr.nlm.nih.gov/condition/desmoid-tumor}}</ref>
**β-catenin is abnormally stable.<ref>URL: [http://ghr.nlm.nih.gov/condition/desmoid-tumor]. Accessed on: 4 October 2014.</ref>
**β-catenin accumulates in the nucleus.
**β-catenin accumulates in the nucleus.
*Loss of function mutation in the APC gene.
*Loss of function mutation in the APC gene.
**~15% of sporadic desmoids.
**~15% of sporadic desmoids.
** All familial adenomatous polyposis associated desmoids.
** All familial adenomatous polyposis associated desmoids.
**APC product unavailable to interact with β-catenin.
**APC product unavailable to interact with β-catenin.<ref>URL: [http://ghr.nlm.nih.gov/condition/desmoid-tumor]. Accessed on: 4 October 2014.</ref>
**β-catenin is not broken down.
**β-catenin is not broken down.
**β-catenin accumulates in the nucleus.
**β-catenin accumulates in the nucleus.
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