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Alliance canadienne pour la recherche sur le cancer du sein
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No Evidence of BRCA1/2 Genomic Rearrangements in High-Risk French-Canadian Breast/Ovarian Cancer Families

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dc.contributor.author Moisan, A. M.
dc.contributor.author Fortin, J.
dc.contributor.author Dumont, M.
dc.contributor.author Samson, C.
dc.contributor.author Bessette, P.
dc.contributor.author Chiquette, J.
dc.contributor.author LaFramboise, R.
dc.contributor.author Lépine, J.
dc.contributor.author Lespérance, B.
dc.contributor.author Pichette, R.
dc.contributor.author Plante, M.
dc.contributor.author Provencher, L.
dc.contributor.author Voyer, P.
dc.contributor.author Goldgar, D.
dc.contributor.author Bridge, P.
dc.contributor.author Simard, J.
dc.date.accessioned 2010-01-29T18:52:45Z
dc.date.available 2010-01-29T18:52:45Z
dc.date.issued 2006
dc.identifier.citation Moisan, A.M., Fortin, J., Dumont, M., Samson, C., Bessette, P., Chiquette, J., Laframboise, R., Lepine, J., Lesperance, B., Pichette, R., Plante, M., Provencher, L., Voyer, P., Goldgar, D., Bridge, P. & Simard, J. No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families. Genet Test 10, 104-115 (2006). en_US
dc.identifier.uri http://hdl.handle.net/1807.1/830
dc.description Reproduced by generous permission of the publisher. en_US
dc.description http://www.liebertpub.com/ en_US
dc.description.abstract The discovery of deleterious mutations in the breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, has facilitated the identification of individuals at particularly high risk of these diseases. There is a wide variation between populations in the prevalence and related risks of various types of BRCA1/2 mutations, so estimates cannot be extrapolated to Canadians, especially not founder populations such as French- Canadians. Polymerase chain reaction (PCR)-based methods were used to detect the majority of these mutations. These approaches usually failed to detect large DNA rearrangements, which have been claimed to be involved in other populations in 5% to up to 36% of BRCA1-positive families. There is very little information about the contribution of this type of mutation in BRCA2-positive families. To investigate if our available mutation spectrum of BRCA1 and BRCA2 in high-risk French-Canadian breast/ovarian cancer families has been biased by PCR-based direct sequencing methods, we first used Southern blot analysis to test DNA samples from 61 affected/obligate carrier individuals from 58 families in which no BRCA1/2 deleterious mutation was found. Finally, 154 individuals from 135 BRCA1/2 nonconclusive families, including all those tested previously by Southern blot analysis, were tested with the new multiplex ligation probe amplification (MLPA) technique. These approaches failed to detect any rearrangement. Moreover, if the frequency of MLPA-detectable rearrangements in our cohort of 135 BRCA1/2 nonconclusive families was 2.2% or higher, we would have had a 95% or greater chance of observing at least one such rearrangement. As no rearrangements were identified, such large rearrangements must be quite rare in our population. en_US
dc.description.provenance Submitted by Kelly Lee (klee@cbcra.ca) on 2010-01-29T18:52:45Z No. of bitstreams: 1 Simard.pdf: 502463 bytes, checksum: 3bee9fc4a6a6347ba372458af53cff1a (MD5) en
dc.description.provenance Made available in DSpace on 2010-01-29T18:52:45Z (GMT). No. of bitstreams: 1 Simard.pdf: 502463 bytes, checksum: 3bee9fc4a6a6347ba372458af53cff1a (MD5) Previous issue date: 2006 en
dc.language.iso en en_US
dc.publisher Mary Ann Liebert, Inc. en_US
dc.title No Evidence of BRCA1/2 Genomic Rearrangements in High-Risk French-Canadian Breast/Ovarian Cancer Families en_US
dc.type Article en_US

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