Segregation analysis of urothelial cell carcinoma

Katja K H Aben, Laura Baglietto, Agnes Baffoe-Bonnie, Jan Willem W Coebergh, Joan E. Bailey-Wilson, Barry Trink, André L M Verbeek, Mark P. Schoenberg, J. Alfred Witjes, Lambertus A. Kiemeney

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1428-1433
Number of pages6
JournalEuropean Journal of Cancer
Volume42
Issue number10
DOIs
StatePublished - Jul 2006
Externally publishedYes

Fingerprint

Carcinoma
Genes
Cell Aggregation
Kidney Pelvis
Urethra
Ureter
Netherlands
Medical Records
Registries
Urinary Bladder
Smoking
Incidence
Population
Neoplasms

Keywords

  • Familial aggregation
  • Segregation analysis
  • Urothelial cell carcinoma

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology

Cite this

Aben, K. K. H., Baglietto, L., Baffoe-Bonnie, A., Coebergh, J. W. W., Bailey-Wilson, J. E., Trink, B., ... Kiemeney, L. A. (2006). Segregation analysis of urothelial cell carcinoma. European Journal of Cancer, 42(10), 1428-1433. https://doi.org/10.1016/j.ejca.2005.07.039

Segregation analysis of urothelial cell carcinoma. / Aben, Katja K H; Baglietto, Laura; Baffoe-Bonnie, Agnes; Coebergh, Jan Willem W; Bailey-Wilson, Joan E.; Trink, Barry; Verbeek, André L M; Schoenberg, Mark P.; Alfred Witjes, J.; Kiemeney, Lambertus A.

In: European Journal of Cancer, Vol. 42, No. 10, 07.2006, p. 1428-1433.

Research output: Contribution to journalArticle

Aben, KKH, Baglietto, L, Baffoe-Bonnie, A, Coebergh, JWW, Bailey-Wilson, JE, Trink, B, Verbeek, ALM, Schoenberg, MP, Alfred Witjes, J & Kiemeney, LA 2006, 'Segregation analysis of urothelial cell carcinoma', European Journal of Cancer, vol. 42, no. 10, pp. 1428-1433. https://doi.org/10.1016/j.ejca.2005.07.039
Aben KKH, Baglietto L, Baffoe-Bonnie A, Coebergh JWW, Bailey-Wilson JE, Trink B et al. Segregation analysis of urothelial cell carcinoma. European Journal of Cancer. 2006 Jul;42(10):1428-1433. https://doi.org/10.1016/j.ejca.2005.07.039
Aben, Katja K H ; Baglietto, Laura ; Baffoe-Bonnie, Agnes ; Coebergh, Jan Willem W ; Bailey-Wilson, Joan E. ; Trink, Barry ; Verbeek, André L M ; Schoenberg, Mark P. ; Alfred Witjes, J. ; Kiemeney, Lambertus A. / Segregation analysis of urothelial cell carcinoma. In: European Journal of Cancer. 2006 ; Vol. 42, No. 10. pp. 1428-1433.
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