Details

Autor(en) / Beteiligte

• SZABO, Csilla I
• SCHUTTE, Mieke
• FLOORE, Arno N
• KRAAN, Jaennelle
• KLIJN, Jan G. M
• VAN DEN OUWELAND, Ans M. W
• WAGNER, Teresa M. U
• DEVILEE, Peter
• SIMARD, Jacques
• VAN'T VEER, Laura J
• GOLDGAR, David E
• MEIJERS-HEIJBOER, Hanne
• BROEKS, Annegien
• HOUWING-DUISTERMAAT, Jeanine J
• THORSTENSON, Yvonne R
• DUROCHER, Francine
• OLDENBURG, Rogier A
• WASIELEWSKI, Marijke
• ODEFREY, Fabrice
• THOMPSON, Deborah

Titel

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

Ist Teil von

• Cancer research (Chicago, Ill.), 2004-02, Vol.64 (3), p.840-843

Ort / Verlag

Philadelphia, PA: American Association for Cancer Research

Erscheinungsjahr

2004

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• 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.