N. Presneau et al., Mutation by deletion-insertion in BRCA-1 gene in three unrelated French breast ovarian cancer families: possible implication of a mobile element, B CANCER, 86(4), 1999, pp. 385-390
A new type of mutation by deletion-insertion in BRCA-1 gene is found in thr
ee unrelated French breast/ovarian cancer families. Surprisingly deletion a
nd insertion occurred at the same nucleotide position at the end of exon 11
(3958del5ins4), thus generating a truncated protein. This original mutatio
n consists in a deletion of 5 bp (CTCAG) and in an insertion of 4 different
bp (AGGC). Here, we proposed two hypothesis to explain this phenomenom. Th
e first hypothesis is the formation of a hairpin stem-loop structure compri
sing the mutational site and the sequence corresponding to the duplication
insertion 2 nucleotides before the mutation. The second hypothesis, more sp
eculative, consists in an abortive integration of a human mobile element as
a human transposon (tigger 1) which involved a deletion of 5 bp during its
excision and an insertion of 4 bases corresponding to the 5' extremity of
the transposon.