Hereditary urological cancer syndromes

Kieran P. Jefferson*, David A. Gillatt

*Corresponding author for this work

Research output: Contribution to journalReview article

3 Citations (Scopus)


Hereditary urological cancer syndromes are rare, but it is important that they are recognized because they have important prognostic implications; prompt diagnosis can dramatically improve patient outcomes. The urologist or urological oncologist should, therefore, ascertain which tumors of the many seen in clinical practice warrant referral for the opinion of a clinical geneticist. Despite the aggressive natural history of most inherited urological cancer syndromes, organ-preserving treatments are desirable because these syndromes predispose affected patients to the formation of multifocal and metachronous tumors. Identification of the molecular mechanisms that underlie carcinogenesis in both familial and sporadic urological cancers has, in some cases, resulted in novel and specifically targeted approaches to therapy. Patients who present with early-onset or multiple tumors should be carefully investigated for the presence of a hereditary cancer syndrome, and once a diagnosis is made, appropriate screening should be instigated for family members to enable early detection of tumors both within and outside the urogenital tract.

Original languageEnglish
Pages (from-to)218-226
Number of pages9
JournalNature Clinical Practice Urology
Issue number4
Publication statusPublished - Apr 2007
Externally publishedYes

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