HOX gene methylation status analysis in patients with hereditary breast cancer

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Cancer development is related not only to genetic alterations but also to aberrant epigenetic changes that could lead to heritable gene patterns critical for neoplastic initiation and progression. Knowledge of epigenetic regulation in cancer cells is useful for both the understanding of carcinogenesis and for the possibility of using epigenetic drugs. HOX genes deregulation have a crucial role in oncogenesis process and tumor suppression. In this report, the methylation of HOXA1, HOXA9, HOXA10, HOXB13, HNF1B, OTX1, TLX1 genes have been analyzed in patients with hereditary breast cancer. This is the first study analyzing BRCA mutational status of patients with respect to methylation of HOX genes. HOXA10 has been found to be methylated in all patients analyzed but never in healthy subjects. With respect to clinical pathological information, hypermethylation of all studied genes, with the exception of OTX1, was significantly associated with absence of HER2 neu expression (P

Original languageEnglish
Pages (from-to)51-53
Number of pages3
JournalJournal of Human Genetics
Issue number1
Publication statusPublished - Jan 2013


  • BRCA1
  • BRCA2
  • Familial breast cancer
  • HOX genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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