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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
Author(s) -
Wang Tieling,
Lerer Israela,
Gueta Zehava,
Sagi Michal,
Kadouri Luna,
Peretz Tamar,
Abeliovich Dvorah
Publication year - 2001
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.1110
Subject(s) - alu element , exon , biology , genetics , gene , breakpoint , mutation , intron , microbiology and biotechnology , insertion , genome , human genome , chromosome
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.