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`Hum Mol Genet. 1993 Nov;2(11):1823-8.
`Genetic analysis of the BRCA1 region in a large breast/ovarian family:
`refinement of the minimal region containing BRCA1.
`1
`Kelsell DP , Black DM, Bishop DT, Spurr NK.
`Author information
`
`Abstract
`We have analyzed a single multi-affected breast/ovarian cancer pedigree (BOV3) and have
`shown consistent inheritance of markers on chromosome 17q with the disease confirming that this
`family is due to the BRCA1 gene. Analysis of 17q haplotypes shows a recombination event in a
`bilateral breast cancer case which suggests that the BRCA1 gene lies distal to D17S857;
`D17S857 is thus the new proximal boundary for the region containing BRCA1. Combining this
`information with previously published mapping information suggests that BRCA1 is contained in a
`region estimated at 1-1.5 Mb in length. All seven breast tumour/blood pairs examined from this
`family show loss of heterozygosity in the tumours. The allel retained in each tumour was from the
`disease-bearing chromosome implicating BRCA1 as a tumour suppressor gene. We have
`sequenced the 17 beta-oestradiol dehydrogenase genes (EDH17B1 and EDH17B2) which have
`been suggested as candidate genes for BRCA1 in four members of this family. No germline
`mutations were detected.
`
`PMID: 8281142 [PubMed - indexed for MEDLINE]
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