Familial transitional cell carcinoma

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Germline translocation t(5;20)(p15;q11) and familial transitional cell carcinoma

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Familial transitional cell carcinoma among the population of Iceland

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Absence of karyotype abnormalities in patients with familial urothelial cell carcinoma.

Item does not contain fulltextOBJECTIVES: In a previous pilot study, a constitutional balanced translocation t(5;20)(p15;q11) was identified in a family with urothelial cell carcinoma (UCC). The purpose of this study was to find (additional) constitutional chromosomal abnormalities in selected families to obtain an indication for genome location(s) of UCC susceptibility gene(s). METHODS: UCC families were selected through an ongoing study on familial clustering of UCC, the largest study on this subject ever performed. This study included 1193 new patients with UCC of the bladder, ureter, and renal pelvis, identified from the population-based cancer registries of the Dutch Comprehensive Cancer Centers East and South. Information on demographic factors, smoking habits, and family history of UCC was collected by postal questionnaires. UCC in the families was verified with pathology reports. Thirty families were selected in which 2 or 3 individuals were affected, preferably diagnosed at a relatively young age. Blood samples were obtained from all probands, and routine cytogenetic analysis was performed on 23 male and 7 female UCC patients. Subsequent spectral karyotyping was performed in 4 patients from families, which were most suggestive for an inherited etiology. RESULTS: No aberrant chromosomal features were found by either classical or spectral karyotype analyses. CONCLUSIONS: It is conceivable that genetic germline abnormalities do exist in the patients in our study but are below the detection limit of the explorative methods used in this study

No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.

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Segregation analysis of urothelial cell carcinoma.

Contains fulltext : 49842.pdf (publisher's version ) (Closed access)A family history of urothelial cell carcinoma (UCC) confers an almost two-fold increased risk of developing UCC. It is unknown whether (part of) this aggregation of UCC has a Mendelian background. We performed complex segregation analyses on 1193 families ascertained through a proband with UCC of the bladder, ureter, renal pelvis or urethra, who were newly diagnosed between January 1, 1995 and December 31, 1997 and registered by two population-based cancer registries in the southeastern part of the Netherlands. Data were reported on 10 738 first-degree relatives by postal questionnaire; 101 of these relatives had UCC. All reported occurrences of UCC were verified (if possible) using medical records. Analyses were performed with the S.A.G.E. segregation package. Five restricted models (Mendelian dominant, Mendelian recessive, Mendelian co-dominant, 'no major gene' model and environmental model) were tested against the general unrestricted model. Sex and smoking status were incorporated as covariates. Strong evidence of Mendelian inheritance of UCC through a single major gene was not found in these 1 193 families. However, since none of the Mendelian models could be rejected, an inherited subtype of UCC cannot be excluded. A major gene may segregate in some families but this effect may have been masked in a background of high sporadic incidence. The 'no major gene' (or sporadic) model appeared to be the most parsimonious one to describe the occurrence of UCC in these families