Large and genomic rearrangements in Danish high risk breast-ovarian cancer families
Résumé
germ-line mutations predispose to breast and ovarian cancer. Large genomic rearrangements of account for 0–36% of all disease causing mutations in various populations, while large genomic rearrangements in are more rare. We examined 642 East Danish breast and/or ovarian cancer patients in whom a deleterious mutation in and was not detected by sequencing using the multiplex ligation-dependent probe amplification (MLPA) assay. We identified 15 patients with 7 different genomic rearrangements, including a exon 5–7 deletion with a novel breakpoint, a exon 13 duplication, a exon 17–19 deletion, a exon 3–16 deletion, and a exon 20 deletion with a novel breakpoint as well as two novel exon 17–18 and exon 19 deletions. The large rearrangements in and accounted for 9.2% (15/163) of all and mutations in East Denmark. Nine patients had the exon 3–16 deletion in . By SNP analysis we find that the patients share a 5 Mb fragment of chromosome 17, including , indicating that the exon 3–16 deletion represents a Danish founder mutation.
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