Abstract：
: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. We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer.
journal_name
Cancer Resjournal_title
Cancer researchauthors
Szabo CI,Schutte M,Broeks A,Houwing-Duistermaat JJ,Thorstenson YR,Durocher F,Oldenburg RA,Wasielewski M,Odefrey F,Thompson D,Floore AN,Kraan J,Klijn JG,van den Ouweland AM,Wagner TM,Devilee P,Simard J,van 't Veer LJ,Gdoi
10.1158/0008-5472.can-03-2678subject
Has Abstractpub_date
2004-02-01 00:00:00pages
840-3issue
3eissn
0008-5472issn
1538-7445journal_volume
64pub_type
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