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Genetic Testing of Children at Risk for Adult Onset Conditions: When is Testing Indicated?
Author(s) -
Lwiwski N.,
Greenberg C. R.,
Mhanni A. A.
Publication year - 2008
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-008-9161-4
Subject(s) - genetic counseling , genetic testing , family history , colorectal cancer , medicine , mlh1 , disease , cancer , age of onset , lynch syndrome , young adult , genetics , gerontology , dna mismatch repair , biology
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.