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Linkage Analysis of DRD2, a Marker Linked to the Ataxia-Telangiectasia Gene, in 64 Families with Premenopausal Bilateral Breast Cancer¹

Departments of Epidemiology [V. C., S. I., R. M., A. D., R. W. H.], Pathology [R. A. G.], and Medical/Pediatric Genetics [R. S. S.], University of California, Los Angeles, California 90024-1772; Institut Armand-Frappier, Laval, Quebec, Canada H7N 4Z3 [L. R.]; Applied Medical Sciences, University of S. Maine, Portland, Maine 04103 [W. D. T.]; and Department of Preventive Medicine, University of Southern California Los Angeles, California 90033 [A. P-H.]

Recent reports suggest that subjects who are heterozygous for the ataxia-telangiectasia gene are at increased risk of breast cancer. We conducted linkage analyses of 64 families with premenopausal bilateral breast cancer using DRD2, a marker linked to the ataxia-telangiectasia locus at 11q22–23. We assumed a model with dominant transmission of breast cancer. Lod scores summed over all families provided strong evidence against tight linkage (e.g., a lod score of -6.08 at = 0.00001), although a single family provides suggestive evidence of tight linkage to DRD2. Evidence against linkage to 11q was strongest among families that may involve the BRCA1 breast cancer susceptibility gene on 17q21. However, we did not observe evidence of linkage to 11q among the remaining subgroup with neither a family history of ovarian cancer nor the appearance of linkage to 17q21.

¹ This work was supported by Grant 36386 from the National Cancer Institute.

Received 7/23/93. Accepted 9/20/93.

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