Analyse génomique et transcriptionnelle des gènes de susceptibilité aux cancers du sein et de l'ovaire BRCA1 et BRCA2 chez les Canadiennes françaises
|Abstract:||The discovery of two genes, BRCA1 and BRCA2, which, when altered, confer markedly increased susceptibility to breast and ovarian cancer, has facilitated the identification of individuals at particularly high-risk of these diseases. First, extensive screening for germline mutations in the French-Canadian high risk breast/ovarian cancer families led to the detection of the first BRCA1 splice variant caused by an in-frame insertion. This transcript, designated exon 13A, is generated by an insertion of 66 nucleotides between exon 13 and 14, due to an alternative splicing of parts of intron 13 (IVS13-2786_-2720). Second, based on our current extensive analysis, without using PCR-based methods, there is no evidence supporting the existence of any deleterious BRCA1/2 recurrent genomic rearrangement in these same French-Canadian breast/ovarian cancer families.|
|Document Type:||Mémoire de maîtrise|
|Open Access Date:||12 April 2018|
|Collection:||Thèses et mémoires|
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