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Linkage mapping in familial breast cancer: improved localisation of a susceptibility locus on chromosome 17q12-21.

作者信息

Porter D E, Cohen B B, Wallace M R, Carothers A, Steel C M

机构信息

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

出版信息

Int J Cancer. 1993 Jan 21;53(2):188-98. doi: 10.1002/ijc.2910530203.

DOI:10.1002/ijc.2910530203
PMID:8425756
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 is 4.45 at theta = 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 summated LOD to 5.62 at theta = 0.025 using 42D6. A genetic exclusion map of critical recombinants in linked families suggests that the gene is flanked by markers 42D6 and MFD188, a region 5 to 10 cm in length.

摘要

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