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Orv Hetil. 2015 Feb 1;156(5):171-7. doi: 10.1556/OH.2015.30092.

[Molecular genetics of familial tumour syndromes of the central nervous system].

[Article in Hungarian; Abstract available in Hungarian from the publisher]

Author information

1
Debreceni Egyetem, Általános Orvostudományi Kar Patológiai Intézet, Neuropatológiai Tanszék Debrecen Nagyerdei krt. 98. 4032.
2
Debreceni Egyetem, Általános Orvostudományi Kar Orvosi Rehabilitáció és Fizikális Medicina Tanszék Debrecen Debreceni Egyetem, Általános Orvostudományi Kar Neurológiai Tanszék Debrecen.

Abstract

in English, Hungarian

Although most of the central nervous system tumours are sporadic, rarely they are associated with familial tumour syndromes. These disorders usually present with an autosomal dominant inheritance and neoplasia develops at younger age than in sporadic cases. Most of these tumours are bilateral, multiplex or multifocal. The causative mutations occur in genes involved in cell cycle regulation, cell growth, differentiation and DNA repair. Studying these hereditary cancer predisposition syndromes associated with nervous system tumours can facilitate the deeper understanding of the molecular background of sporadic tumours and the development of novel therapeutic agents. This review is an update on hereditary tumour syndromes with nervous system involvement with emphasis on molecular genetic characteristics and their clinical implications.

KEYWORDS:

cancer syndrome; central nervous system; daganatszindróma; genetics; genetika; központi idegrendszer

PMID:
25618858
DOI:
10.1556/OH.2015.30092
[Indexed for MEDLINE]

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