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Cancer Genet. 2017 Apr;212-213:19-23. doi: 10.1016/j.cancergen.2017.03.008. Epub 2017 Mar 30.

Cancer in Machado-Joseph disease patients-low frequency as a cause of death.

Author information

1
Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Brazil.
2
Escola de Enfermagem, Universidade Federal do Rio Grande do Sul, Brazil.
3
Escola de Serviço Social, Universidade Federal do Rio Grande do Sul, Brazil.
4
Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil; Laboratório de Identificação Genética, Hospital de Clínicas de Porto Alegre, Brazil.
5
Departamento de Matemática e Estatística, Universidade Federal do Rio Grande do Sul, Brazil.
6
Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil; Laboratório de Identificação Genética, Hospital de Clínicas de Porto Alegre, Brazil.
7
Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil; Laboratório de Identificação Genética, Hospital de Clínicas de Porto Alegre, Brazil; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Rio de Janeiro, Brazil. Electronic address: ljardim@hcpa.edu.br.

Abstract

Since polyglutamine diseases have been related to a reduced risk of cancer, we aimed to study the 15 years cumulative incidence of cancer (CIC) (arm 1) and the proportion of cancer as a cause of death (arm 2) in symptomatic carriers of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). SCA3/MJD and control individuals from our state were invited to participate. A structured interview was performed. CIC as published by the Brazilian National Institute of Cancer, was used as populational control. Causes of death were obtained from the Public Information System on Mortality. We interviewed 154 SCA3/MJD patients and 80 unrelated controls: CIC was 7/154 (4.5%) and 5/80 (6.3%), respectively. The interim analysis for futility showed that the number of individuals required to detect a significant difference between groups (1938) would be three times larger than the existing local SCA3/MJD population (625), for an absolute risk reduction of 1.8%. Then this study arm was discontinued due to lack of power. In the same period, cancer was a cause of death in 9/101 (8.9%) SCA3/MJD and in 52/202 (26.2%) controls, with an absolute reduction risk of 17.3% (OR 0.27, 95%CI 0.13 to 0.58, p = 0.01). A significant reduction of cancer as cause of death was observed in SCA3/MJD, suggesting a common effect to all polyglutamine diseases.

KEYWORDS:

Cancer; Machado–Joseph disease; causes of death; polyglutamine diseases; spinocerebellar ataxia type 3

PMID:
28449807
DOI:
10.1016/j.cancergen.2017.03.008
[Indexed for MEDLINE]

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