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A Region of Allelic Imbalance in 1q31–32 in Primary Breast Cancer Coincides with a Recombination Hot Spot¹

Departamento Genética [J. B., A. O., A. B., E. A., M. R.] and Unidad Patología Molecular [M. A. D-G., S. R. d. C., D. H-S.], Fundación Jimenez Díaz. 28040 Madrid, and Departamento Inmunología, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, 28006 Madrid [M. A. D-G., S. R. d. C., D. H-S.], Spain

Previous studies have shown that the 1q31–32 region frequently presents allelic imbalance (AI) in various neoplastic diseases, such as breast cancer, medulloblastoma, male germ cell tumors, and renal collecting duct carcinoma, suggesting the presence of a tumor suppressor gene in this location. We used 19 informative microsatellite markers to analyze 33 primary breast tumors for AI in the 1q31–32 region. Our results demonstrate a 10-cM critical region of AI that is present in more than 60% of the tumors. This region is located proximal to the REN locus and is flanked by the CACNL1A3 and D1S2655 markers. Most important, the critical region of AI coincides with a female hot spot of recombination, suggesting a possible correlation between the two regions.

¹ This work has been partially supported by DGCYT 96/0192 and 96/0055, FIS 94/0885 and CAM AE00360/95. A. Osorio is a fellow of Fundación Conchita Rábago.

² To whom requests for reprints should be addressed, at Departamento Genética, Fundación Jimenez Díaz, Avenida Reyes Católicos 2, 28040 Madrid, Spain. Phone: 34-1-5449223; Fax: 34-1-5494764; E-mail: fjd_genetica@jet.es.

Received 7/11/97. Accepted 8/12/97.

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