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 DIAGnostics - Clinical Research (professional requests)
 Clinical interpretation of dome BRCA mutation
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| Author | Topic: Clinical interpretation of dome BRCA mutation |
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edgen Member |
posted 07-23-2004 12:36 PM
   
Dear colleagues, one of our patients has been tested for the presence of mutations in BRCA1, BRCA2 genes. The following mutations have been revealed: BRCA1: 1186A>G (Q356R); BRCA2: 203G>A (5’-UTR), 1342C>A (H372N). It is not clear for me on the clinical importance of these mutations. Actually I have found only a few publications in which these mutations were mentioned. Whether somebody can help us with this subject? Thanks in advance, IP: 195.178.203.89 |
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lidereau Member |
posted 08-10-2004 03:21 PM
the BRCA1 1186A>G is found in a family associated with a deleterious mutation. The 203G>A is also found asociated with a deleterious mutation in one family. This is from the french consortium. IP: 212.180.64.18 |
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jkennedy Member |
posted 09-16-2004 11:43 AM
Have you tried the BIC database, URL: http://research.nhgri.nih.gov/bic/ it's open access and free. Most of the info comes from Myriad, but they also do functional studies as well on new sequence variants to try and determine pathogenicity. regards IP: 193.60.159.61 |
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