Abstract:
:Referring to the mutational theory of carcinogenesis in embryonal tumors, it is commonly accepted that patients with multifocal tumors are hereditary cases. This is based on the implicit assumption that each tumor results from a single mutational event occurring in a cell that has already inherited a mutation, and that these tumors are independent. We studied the distribution of tumors in 1,868 cases where the focality was known (SIOP 1, 2, 5 and 6). Using all the supposed gene carriers (bilateral and unilateral multifocal cases), and assuming a Poisson distribution of tumors, we estimated the mean number m of tumors in each kidney to be 0.37. Comparing the observed distribution of cases to the expected one, we found a very bad fit to this hypothesis (P < 10(-9)). This is due to an excess of multifocal tumors, particularly in unilateral cases. These findings have important implications in genetic counseling, since the usual practice of considering multifocal tumor patients as hereditary cases may result in a large overestimate of the recurrence risk in such cases. The implications for the mechanisms of tumor development are also discussed.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Bonaïti-Pellié C,Chompret A,Tournade MF,Lemerle J,Voute PA,Delemarre JFdoi
10.1007/BF00217359subject
Has Abstractpub_date
1993-05-01 00:00:00pages
373-6issue
4eissn
0340-6717issn
1432-1203journal_volume
91pub_type
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