PARENT SESSION
1:30 PM to 3:30 PM
Monday, April 23, 2001
Poster Session 20 Oncogenes/Suppressor Genes
Room: Exhibition Center

(P20-251) ATM Missense Mutations: Structure-Function Implications in Breast Cancer.

Jung, Mira¹, Buzin, Carolyn², Jeong, Sook¹, Sommer, Steve², Zheng, Jian², Liu, Qiang², Moulds, Jefferson¹, Bennett, William², Dritschilo, Anatoly¹, ^{1 2}

ABSTRACT-
Studies of families of patients with ataxia telangiectasia (A-T) show an increased risk of breast cancer in heterozygous A-T carriers. However, expected levels of mutations in the ATM gene among unselected breast cancer patients have not been found to date. We have examined genomic DNA from 43 breast cancer patients and 43 control individuals matched for ethnicity using a modified SSCP technique, DOVAM-S. When all structural changes common to cases and controls were excluded, ten missense changes and one splice mutation were found in cases and two missense changes in controls (p=0.018). Furthermore, distribution of mutations was predominantly in the amino terminus coding region while the carboxy terminal was highly conserved. Since protein-protein interactions are amino terminus based events, our data suggest that further investigation of these mutations may yield insight into mechanisms underlying breast carcinogenesis.

KEYWORDS: ATM, breast cancer, SSCP