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Author Topic:   Clinical interpretation of dome BRCA mutation
edgen
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posted 07-23-2004 12:36 PM     Click Here to See the Profile for edgen   Click Here to Email edgen     Edit/Delete Message Reply w/Quote
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,
Edward.

IP: 195.178.203.89

lidereau
Member
posted 08-10-2004 03:21 PM     Click Here to See the Profile for lidereau   Click Here to Email lidereau     Edit/Delete Message Reply w/Quote
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

jkennedy
Member
posted 09-16-2004 11:43 AM     Click Here to See the Profile for jkennedy   Click Here to Email jkennedy     Edit/Delete Message Reply w/Quote
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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