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.
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 approximately 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.
Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.
T
T
Wang
I
I
Lerer
Z
Z
Gueta
M
M
Sagi
L
L
Kadouri
T
T
Peretz
D
D
Abeliovich
D000328:Adult; D000368:Aged; D020087:Alu Elements / Q000235:genetics*; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics; D002872:Chromosome Deletion; D019143:Evolution, Molecular; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D011061:Poly A / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors; D011061:Poly A