Genetic Predisposition to Wilms Tumor
نویسندگان
چکیده
Wilms tumor is a primarily sporadic disease, with only 1–2 % of affected individuals having a relative with Wilms tumor. However, bilateral Wilms tumors occur in approximately 5 % of cases, and Wilms tumor has been reported in association with more than 50 different genetic disorders, pointing to an underlying predisposition in further individuals. There is conclusive evidence of an increased risk of Wilms tumor in only a small number of disorders, including familial Wilms tumor, the WT1 -related syndromes, certain overgrowth disorders including Beckwith-Wiedemann syndrome and a small number of other cancer predisposition syndromes. The identifi cation of the molecular defects that underlie these Wilms predisposition syndromes clarifi es the risks of Wilms tumor risks and assists in the targeting of Wilms surveillance to those at increased risk. For example, in some disorders such as the 11p15-overgrowth disorders, it has emerged that only a subset of individuals are at increased risk of Wilms tumor. The discovery of further Wilms predisposition alleles is set to continue and will improve our ability to identify and manage those at increased risk of Wilms tumor.
منابع مشابه
Penetrance of mutations in the familial Wilms tumor gene FWT1.
Wilms tumor is an embryonal kidney cancer that affects one in 10 000 children. Epidemiologic studies have shown that 1%–3% of cases of Wilms tumor are familial and that a predisposition to Wilms tumor is probably caused by rare germline mutations acting in a dominant fashion (1). The risks of Wilms tumor conferred by mutations in these genes are poorly characterized, with estimates of their pen...
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