Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease with retinal dystrophy leading to blindness, postaxial polydactyly, truncal obesity, learning disabilities, male hypogenitalism, and renal anomalies. Heterozygous carriers of a BBS mutation are not thought to present symptoms of BBS; however, a previous study reported an increased risk of renal cancer among relatives of patients with BBS. This finding was based on the identification of three parents with renal cell carcinoma, representing a 17-fold increased risk. We performed a population-based study in Denmark to examine the incidence of cancer in 116 BBS patients and 428 relatives (96 families) through record linkage of information from files of the Retinitis Pigmentosa Registry, the Central Population Registry, and the Danish Cancer Registry. The clinical diagnosis of BBS was molecularly confirmed in 52% of the patients. Among the patients, two cancers were reported, with 4.3 expected. The cancers were an embryonal carcinoma of the testis in a 23-year-old man and an acoustic neuroma in a 51-year-old man. Among the relatives, 30 cancers were observed, with 45.2 expected. No renal cancers were observed in the two groups. These data do not support the suggested increased risk for renal cancer in relatives of patients with BBS. (c) 2007 Wiley-Liss, Inc.