title: Genetic testing of children at risk for adult onset conditions: when is testing indicated?
abstract: We report a family with an extensive history of colon cancer consistent with hereditary nonpolyposis colorectal cancer (HNPCC). A specific disease causing mutation was identified in affected individuals; p.W714X MLH1 mutation. Given the very young age of onset of cancer in some affected family members, with the youngest affected individual being 19 years of age, genetic counseling was recommended to children as young as 9 years. Ethical issues arose when affected families requested genetic testing for their underage children. Here we describe and debate the value of offering molecular testing for this adult onset disorder to several children in this particular family. We also examine possible molecular causes for the very young age of onset in some family members.
authors.affiliation: Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Lwiwski
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: A A
authors.initials: AA
authors.lastname: Mhanni
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D017668:Age of Onset; D002648:Child; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1