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Cancer incidence in patients with polyglutamine diseases: a population-based study in Sweden.

Ji, Jianguang LU ; Sundquist, Kristina LU and Sundquist, Jan LU (2012) In The Lancet Oncology 13(6). p.642-648
Abstract
BACKGROUND: Polyglutamine (polyQ) diseases are characterised by the expansion of CAG triplet repeats in specific genes. The accumulated encoded proteins affect the transcription of numerous transcription factors. We investigated whether polyQ diseases reduce the risk of cancer development.



METHODS: Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. We calculated standardised incidence ratios for cancers at specific sites or of specific types and the risks were compared with those in the general population. We also analysed risks in the unaffected parents of patients.



... (More)
BACKGROUND: Polyglutamine (polyQ) diseases are characterised by the expansion of CAG triplet repeats in specific genes. The accumulated encoded proteins affect the transcription of numerous transcription factors. We investigated whether polyQ diseases reduce the risk of cancer development.



METHODS: Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. We calculated standardised incidence ratios for cancers at specific sites or of specific types and the risks were compared with those in the general population. We also analysed risks in the unaffected parents of patients.



FINDINGS: In the period January, 1969, to December, 2008, we identified 1510 patients with HD, 471 with SBMA, and 3425 with HA. Cancer was diagnosed in 91 (6·0%) HD patients, 34 (7·2%) SBMA patients, and 421 (12·3%) HA patients. The standardised incidence ratios were 0·47 (95% CI 0·38-0·58), 0·65 (0·45-0·91), and 0·77 (0·70-0·85), respectively. Before diagnosis of polyQ disease, the risk of cancer was even lower. Cancer incidence and risk in the unaffected parents of patients with polyQ diseases were similar to those in the general population.



INTERPRETATION: The consistently decreased incidence of cancer in patients with polyQ diseases suggests that a common mechanism protects against the development of cancer. This feature could be related to the polyQ-tract expansion seen in these diseases. Further studies are warranted to investigate the underlying mechanisms linking cancer and polyQ diseases.



FUNDING: Swedish Cancer Society, Swedish Council for Working Life and Social Research. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
The Lancet Oncology
volume
13
issue
6
pages
642 - 648
publisher
Elsevier
external identifiers
  • wos:000304541200040
  • pmid:22503213
  • scopus:84861563268
ISSN
1474-5488
DOI
10.1016/S1470-2045(12)70132-8
language
English
LU publication?
yes
id
1e336c59-c27d-43a4-8e33-ff4adbdf98a4 (old id 2519434)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/22503213?dopt=Abstract
date added to LUP
2012-05-06 17:49:17
date last changed
2017-11-19 04:18:36
@article{1e336c59-c27d-43a4-8e33-ff4adbdf98a4,
  abstract     = {BACKGROUND: Polyglutamine (polyQ) diseases are characterised by the expansion of CAG triplet repeats in specific genes. The accumulated encoded proteins affect the transcription of numerous transcription factors. We investigated whether polyQ diseases reduce the risk of cancer development. <br/><br>
<br/><br>
METHODS: Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. We calculated standardised incidence ratios for cancers at specific sites or of specific types and the risks were compared with those in the general population. We also analysed risks in the unaffected parents of patients. <br/><br>
<br/><br>
FINDINGS: In the period January, 1969, to December, 2008, we identified 1510 patients with HD, 471 with SBMA, and 3425 with HA. Cancer was diagnosed in 91 (6·0%) HD patients, 34 (7·2%) SBMA patients, and 421 (12·3%) HA patients. The standardised incidence ratios were 0·47 (95% CI 0·38-0·58), 0·65 (0·45-0·91), and 0·77 (0·70-0·85), respectively. Before diagnosis of polyQ disease, the risk of cancer was even lower. Cancer incidence and risk in the unaffected parents of patients with polyQ diseases were similar to those in the general population. <br/><br>
<br/><br>
INTERPRETATION: The consistently decreased incidence of cancer in patients with polyQ diseases suggests that a common mechanism protects against the development of cancer. This feature could be related to the polyQ-tract expansion seen in these diseases. Further studies are warranted to investigate the underlying mechanisms linking cancer and polyQ diseases. <br/><br>
<br/><br>
FUNDING: Swedish Cancer Society, Swedish Council for Working Life and Social Research.},
  author       = {Ji, Jianguang and Sundquist, Kristina and Sundquist, Jan},
  issn         = {1474-5488},
  language     = {eng},
  number       = {6},
  pages        = {642--648},
  publisher    = {Elsevier},
  series       = {The Lancet Oncology},
  title        = {Cancer incidence in patients with polyglutamine diseases: a population-based study in Sweden.},
  url          = {http://dx.doi.org/10.1016/S1470-2045(12)70132-8},
  volume       = {13},
  year         = {2012},
}