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Status: Bibliographieeintrag

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Verfasst von:Pfarr, Nicole [VerfasserIn]   i
 Kriegsmann, Mark [VerfasserIn]   i
 Sinn, Peter [VerfasserIn]   i
 Endris, Volker [VerfasserIn]   i
 Herpel, Esther [VerfasserIn]   i
 Muckenhuber, Alexander [VerfasserIn]   i
 Jesinghaus, Moritz [VerfasserIn]   i
 Penzel, Roland [VerfasserIn]   i
 Weichert, Wilko [VerfasserIn]   i
 Stenzinger, Albrecht [VerfasserIn]   i
Titel:Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast
Titelzusatz:implications for tumor biology and pathological diagnosis
Verf.angabe:Nicole Pfarr, Mark Kriegsmann, Peter Sinn, Frederick Klauschen, Volker Endris, Esther Herpel, Alexander Muckenhuber, Moritz Jesinghaus, Bernd Klosterhalfen, Roland Penzel, Jochen K. Lennerz, Wilko Weichert, Albrecht Stenzinger
Umfang:9 S.
Fussnoten:Gesehen am 11.04.2017
Titel Quelle:Enthalten in: Genes, chromosomes & cancer
Jahr Quelle:2015
Band/Heft Quelle:54(2015), 7, S. 444-452
ISSN Quelle:1098-2264
Abstract:Somatic mutations in exon 2 of MED12 have been described in benign and malignant smooth muscle cell tumors suggesting a functional role in these neoplasms. Recently fibroadenomas of the breast were also reported to harbor MED12 mutations. Hence, we explored MED12 mutations in fibroepithelial tumors of the breast, histological subtypes of fibroadenomas and phyllodes tumors, to validate and extend previous efforts. Using conventional Sanger sequencing, we profiled 39 cases of fibroepithelial breast tumors comprising classic histological subtypes of fibroadenomas as well as benign and malignant phyllodes tumors for mutations in exon 2 of MED12. MED12 mutations were detected in 60% of all tumor samples with the majority being missense mutations affecting codon 44. Additionally, we report novel in-frame deletions that have not been described previously. Sixty-two percent of the fibroadenomas harbored mutated MED12 with intracanalicular fibroadenomas being the most frequently mutated histological subtype (82%). Of note, 8/11 of benign phyllodes tumors had MED12 mutations while only 1/5 of malignant phyllodes tumors showed mutations in exon 2 of MED12. In conclusion, we confirm the frequent occurrence of MED12 mutations in fibroadenomas, provide evidence that most intracanalicular fibroadenomas closely resembling benign phyllodes as well as benign phyllodes tumors harbor MED12 mutations, and conclude that MED12 mutations in malignant phyllodes tumors appear to be relatively rare. © 2015 Wiley Periodicals, Inc.
DOI:doi:10.1002/gcc.22256
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Verlag: http://dx.doi.org/10.1002/gcc.22256
 Verlag: http://onlinelibrary.wiley.com/doi/10.1002/gcc.22256/abstract
 DOI: https://doi.org/10.1002/gcc.22256
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1556492901
Verknüpfungen:→ Zeitschrift

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