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A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: A possible role of the Alu-polyA tail in the evolution of the deletion

✍ Scribed by Tieling Wang; Israela Lerer; Zehava Gueta; Michal Sagi; Luna Kadouri; Tamar Peretz; Dvorah Abeliovich

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 127 KB
Volume: 31
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.1110

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✦ Synopsis

Abstract

Patients with breast and/or ovarian cancer were screened for gross rearrangements in the BRCA2 gene by Southern hybridization, with exon 10 and a fragment of exon 11 used as probes. One breast cancer patient with a positive family history had a 6.2‐kb deletion including exons 12 and 13. The deletion breakpoint in intron 11 was in the 3′ polyA tail of an Alu element, where a track of ≈60 adenine nucleotide residues was inserted. Expansion of the Alu‐polyA tail may have resulted from polymerase slippage during replication, representing a novel mechanism in which Alu elements mediate deletion/insertion mutations. © 2001 Wiley‐Liss, Inc.

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