Journal article

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

Csilla I Szabo, Mieke Schutte, Annegien Broeks, Jeanine J Houwing-Duistermaat, Yvonne R Thorstenson, Francine Durocher, Rogier A Oldenburg, Marijke Wasielewski, Fabrice Odefrey, Deborah Thompson, Arno N Floore, Jaennelle Kraan, Jan GM Klijn, Ans MW van den Ouweland, Teresa MU Wagner, Peter Devilee, Jacques Simard, Laura J van 't Veer, David E Goldgar, Hanne Meijers-Heijboer

Cancer Research | Published : 2004


Two mutations of the ATM gene were recently suggested to confer breast cancer risks similar to mutations of BRCA1 or BRCA2. Here, we set out to confirm these findings in 961 families with non-BRCA1/BRCA2 breast cancer from diverse geographical regions. We did not detect the ATM 7271T-->G mutation in any family. The ATM IVS10-6T-->G mutation was detected in eight families, which was similar to its frequency among population-matched control individuals (pooled Mantel-Haenszel odds ratio = 1.60; 95% confidence interval = 0.48 to 5.35; P = 0.44). Bayesian analysis of linkage in the ATM IVS10-6T-->G-positive families showed an overall posterior probability of causality for this mutation of 0.008...

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