To define regions of deletion of chromosome 6q in breast cancer, we sc
ored 18 (CA)(n) microsatellites for allelic imbalance (AI) in 42 paire
d blood/tumour samples. Heterozygosity frequencies of the markers in t
he sample population ranged from 31% to 92% (mean 68%). Two regions of
the chromosome arm showed Al values greater than the background range
of 10-22% (mean 17%) of informative cases that was observed with five
markers spanning 6q21-q25.2. Firstly, seven markers gave Al values th
at averaged 35% in a region flanked by D6S313 (AI = 10%) at 6q13 and D
6S283 (AI = 17%) at 6q16.3-21. The second region showed marginally inc
reased Al at 6q25.2-q27 and included D6S193, previously shown to be cl
ose to a tumour-suppressor gene involved in ovarian carcinoma. Since A
I of 6q in breast cancer was shown previously to be due predominantly
to loss of heterozygosity, our results suggest the presence of at leas
t two tumour-suppressor genes on 6q that are involved in breast cancer
. The proximal region has not been recognised in breast cancer before
and is involved in a higher frequency of tumours than the distal regio
n.