Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults Journal Article

   


Authors: Pareja, F.; Da Cruz Paula, A.; Murray, M. P.; Hoang, T.; Gularte-Mérida, R.; Brown, D.; Da Silva, E. M.; Sebastiao, A. P. M.; Giri, D. D.; Weigelt, B.; Reis-Filho, J. S.; Brogi, E.
Article Title: Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults
Abstract: Aims Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and young adults. Methods DNA from 21 consecutive FAs and eight consecutive BePTs in adolescents and young adults was subjected to Sanger sequencing of the exon 2 of MED12 and the TERT promoter hotspot locus. Results We identified MED12 exon 2 mutations in 62% and 88% of FAs and BePTs, respectively, and no TERT promoter hotspot mutations. The majority of the MED12 exon 2 mutations identified were in-frame deletions (60%). Conclusions As in adults, benign FELs in juvenile patients harbour recurrent MED12 exon 2 mutations. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Keywords: adolescent; adult; young adult; exon; genetics; mutation; exons; phyllodes tumor; breast neoplasms; telomerase; breast tumor; fibroadenoma; sequencing; mediator complex; med12; humans; human; female; phyllodes tumour; med12 protein, human
Journal Title: Journal of Clinical Pathology
Volume: 72
Issue: 3
ISSN: 0021-9746
Publisher: BMJ Publishing Group Ltd.  
Date Published: 2019-03-01
Start Page: 258
End Page: 262
Language: English
DOI: 10.1136/jclinpath-2018-205570
PUBMED: 30467240
PROVIDER: scopus
PMCID: PMC6580856
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85057102132&doi=10.1136%2fjclinpath-2018-205570&partnerID=40&md5=c4376a0d2fa072f04b0b11d67618d38d
Notes: Article -- Export Date: 1 April 2019 -- Source: Scopus
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MSK Authors
  1. Melissa P Murray
    123 Murray
  2. Dilip D Giri
    184 Giri
  3. Edi Brogi
    515 Brogi
  4. Britta Weigelt
    633 Weigelt
  5. Jorge Sergio Reis-Filho
    639 Reis-Filho
  6. Arnaud Fabian Da Cruz Paula
    145 Da Cruz Paula
  7. Fresia Gilda Pareja Zea
    216 Pareja Zea
  8. Edaise Maria Da Silva
    95 Da Silva
  9. Rodrigo Jose Gularte Merida
    28 Gularte Merida
  10. David Norman Brown
    91 Brown
  11. Timothy J. Hoang
    8 Hoang
  12. Ana Paula Martins Sebastiao
    33 Martins Sebastiao
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