Linkage mapping in familial breast cancer: Improved localisation of a susceptibility locus on chromosome 17q12‐21

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Abstract
Fifteen pedigrees with a total of 75 cases of breast cancer, 10 of ovarian cancer and 53 of other cancers have been collected. Polymorphic markers on chromosome 17q have been screened to locate a putative breast‐cancer gene using DNA from relevant individuals within these families. Pairwise LOD scores have been calculated for markers CMM86, NM23, 42D6 and MFD188. The maximal summated LOD for the 15 families 4.45 at 8 = 0.025 using 42D6. All cases of bilateral breast cancer and ovarian cancer appear to be linked to this region. Recalculating LOD scores on the assumption of linkage in these cases increases the maximal rummated LOD to 5.62 at 8 = 0.025 using 4206. A genetic exclusion map of critical recombinants linked families suggests that the gene is flanked by markers 42D6 and MFD188, a region 5 to 10 cm in length.