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BRCA code - stiminey

Posted: Apr 13, 2012

Doc dictates "BRCA thirty-two ninety-seven deletion six"

what is the proper way to type that value. I've tried googling it and can't come up w/ anything I'm comfortable with.

BRCA 3297del6 - tmt

[ In Reply To ..]
SOURCE:

http://www.ncbi.nlm.nih.gov/pubmed/9799090

A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequence, CTCAG, was deleted and replaced by AGGC in the three families. The consequence is the generation of a stop codon, TAG, resulting in a truncated protein. We propose two different mechanisms to explain the generation of this complex mutation: (i) the simultaneous occurrence of a deletion and an insertion in a stem-loop structure and (ii) the abortive integration of a human transposable element (Tigger 1) that deleted 5 nucleotides and inserted a 4-nucleotide "scar", corresponding to the 5' extremity of the transposon.

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