De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children. A third child, with the same APC allelic haplotype received a normal APC allele, suggesting that the mutation originated in the gonadal tissues of the mother. These results underscore the utility of mutation-specific genetic testing for the parents and siblings of a proband of an adult-onset disease, even if the proband appears to have a de novo mutation. Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism. © 2007 Springer Science+Business Media B.V.
CITATION STYLE
Schwab, A. L., Tuohy, T. M. F., Condie, M., Neklason, D. W., & Burt, R. W. (2008). Gonadal mosaicism and familial adenomatous polyposis. Familial Cancer, 7(2), 173–177. https://doi.org/10.1007/s10689-007-9169-1
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