A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot.

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.