Reeves SG et al. – Insulin-like growth factor-I (IGFI) cytosine-adenine (CA) repeat is an important modifier of disease onset in HNPCC and the first polymorphism to yield consistent results across different populations Methods
Study of CA dinucleotide repeat polymorphism located near the promoter region of IGF1 and its relation to early onset colorectal cancer (CRC) risk in 443 Australian and Polish MMR gene mutation carriers
Use of DNA sequencing, Kaplan-Meier survival curves, and Cox proportional hazard regression analysis
Results
Significantly smaller number of IGF1 CA repeats in Polish pts, which was associated with earlier age of disease onset, vs that in Australian pts
The threshold for the observed modifying effect was again shown to be in pts with 17 or less CA repeats compared to those with 18 or more
With MMR mutation grp (MLH1; MSH2), gender and family clustering were in the Cox model, the role of IGF1 CA repeat in predicting age of disease onset in HNPCC pts was more robust trend
This effect was equal in both MLH1 and MSH2 mutation carrier grps and not restricted to a particular MMR subgrp
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