Cell lines:
- No truncating mutations were found in
RAD51,
RAD52, and
RAD54, in 15 human breast cancer cell (BCC) lines (MDA-MB-157, -175-VI, -231, -415, -435, -436, -453, -468, MCF-7, MCF-7/Adr, UACC-893, T-47D, BT-483, -549, Hs578T (Bell D.W. et al., 1999).
Tumors:
- Loss of heterozygosity (LOH) was found in the RAD54 region in 22/109 (20%) breast tumors. LOH in this region was significantly correlated to higher histologic grade and higher stage (Gonzalez R. et al., 1999).
-
RAD51,
RAD52, and
RAD54 were analysed for the presence of germ-line mutations in 100 cases with early-onset breast cancer. Two premature stop codons, ser346ter and Tyr415ter, were identified in germ-line
RAD52 alleles from 5% of early-onset breast cancer cases. Together, these two heterozygotous mutations were also found in 8% of a healthy control population, indicating that they do not confer an increased risk for breast cancer. A rare germ-line missense mutation was identified in
RAD54, whereas no sequence variants were found in
RAD51 (Bell D.W. et al., 1999).
Bell D.W. et al. (1999) Common nonsense mutations in
RAD52. Cancer Res. 59, 3883-3888.
Gonzalez R. et al. (1999) Detection of loss of heterozygosity at
RAD51,
RAD52, RAD54 and
BRCA1 and
BRCA2 loci in breast cancer: pathological correlations. Br. J. Cancer 81, 503-509.
Rasio D. et al. (1997) Characterisation of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. Cancer Res. 57, 2378-2383.
