Dupuytren's disease and the risk of malignant neoplasms

作者:Zyluk Andrzej; Paszkowska Szczur Katarzyna; Gupta Satish; Scott Rodney J; Lubinski Jan; Debniak Tadeusz*
来源:Hereditary Cancer in Clinical Practice, 2014, 12(1): 6.
DOI:10.1186/1897-4287-12-6

摘要

The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relatives. In the first stage of the study, we evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in DD families along with the observed and expected frequencies of malignancies. In the second stage of the study, we examined the distribution of 20 common mutations/polymorphisms in 12 known cancer susceptibility genes among DD patients and 508 matched healthy controls. No such study has been published to date. Results. No significant differences were noted between malignancies diagnosed among members of DD families and the general population. Molecular examination of 20 mutations/polymorphisms in 12 cancer susceptibility genes in Dupuytren's patients and controls showed a statistically significant association of one mutation with Dupuytren disease: D312M in XPD (OR = 1.75, p = 0.004). We observed a tendency toward changed frequencies of occurrence of central nervous system tumors, laryngeal cancer and non-melanoma skin cancers in DD families. The results of our study indicate a lack of a strong association between Dupuytren disease and familial cancer risk.

  • 出版日期2014-3-6