Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families
作者： Thomas v. O. Hansen , Lars Jønson , Anders Albrechtsen , Mette K. Andersen , Bent Ejlertsen
DOI: 10.1007/S10549-008-0088-0
关键词: Multiplex ligation-dependent probe amplification 、 Genetics 、 Gene duplication 、 Gene rearrangement 、 Breakpoint 、 Exon 、 SNP array 、 Mutation 、 Chromosome 17 (human) 、 Biology 、 Cancer research 、 Oncology
摘要: BRCA1 and BRCA2 germ-line mutations predispose to breast ovarian cancer. Large genomic rearrangements of account for 0-36% all disease causing in various populations, while large are more rare. We examined 642 East Danish and/or cancer patients whom a deleterious mutation was not detected by sequencing using the multiplex ligation-dependent probe amplification (MLPA) assay. identified 15 with 7 different rearrangements, including exon 5-7 deletion novel breakpoint, 13 duplication, 17-19 deletion, 3-16 20 breakpoint as well two 17-18 19 deletions. The accounted 9.2% (15/163) Denmark. Nine had BRCA1. By SNP analysis we find that share 5 Mb fragment chromosome 17, BRCA1, indicating represents founder mutation.
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