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BRCA1 and BRCA2 variants

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    Posted: Jun 03 2013 at 9:17pm
Hi,

No earth shattering info.....yet.......just a thread for info/resources for BRCA1 and BRCA2 variants.

Interesting article.
http://www.genomeweb.com/clinical-genomics/competition-coming-myriads-brca-test-whether-or-not-gene-patents-hold
It included the following:
....."Myriad's key patents underlying its flagship BRACAnalysis are being challenged in the case Association for Molecular Pathology et al. vs. Myriad. The Supreme Court heard arguments in the case on April 15 and is expected to issue a decision sometime in June. Even if Myriad prevails, and its patents on large swathes of BRCA1 and BRCA2 genes are not invalidated by the court, some of these patents are slated to expire starting in 2015........"
....." A genetics researcher at the University of California, San Francisco, however, is quietly building a public database containing BRCA1 and BRCA2 variants, that he hopes will become the go-to resource for other labs who in the future perform BRCA testing. Just over a year ago, Robert Nussbaum began emailing cancer clinics that order genetic tests for women with a family history of breast and ovarian cancer to make a simple request. He asked whether they would submit de-identified data from patients tested for mutations in BRCA1 and BRCA2 genes to a publicly accessible database, called ClinVar.
A number of clinics agreed and to date ClinVar has amassed data on approximately 1,000 unique BRCA 1 and BRCA 2 variants, around one third of which have not been seen before. Nussbaum, head of the medical genetics division at the University of California, San Francisco, estimates that the amount of data on BRCA1 and BRCA2 genes contained in ClinVar today is about 1 percent of the information accumulated in the proprietary database held by Myriad..........."


FYI: See also thread on BRCA testing:
       http://forum.tnbcfoundation.org/very-important-news-re-tnbc-brca-testing_topic8458_page1.html?KW=BRCA


With caring and positive thoughts,
Grateful for today...........Judy
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Grateful for today Quote  Post ReplyReply Direct Link To This Post Posted: Jun 03 2013 at 10:32pm
From: Genet Med. 2011 Dec;13(12):998-1005. doi: 10.1097/GIM.0b013e318226fc15.
Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions.      Murray ML, Cerrato F, Bennett RL, Jarvik GP.   (Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, USA.)
Abstract
PURPOSE:
Approximately 5-10% of patients who undergo genetic testing of BRCA1 and BRCA2 receive a variant of unknown significance (VUS) result. The ambiguous nature of a VUS may increase difficulty in patient understanding and decision making regarding risk reduction and surveillance options, including cancer risk-reducing surgeries. VUS reclassification to benign or deleterious may occur in time; however, clinical decisions may need to be made expeditiously, and some patients may pursue irreversible treatments before VUS reclassification.
METHODS:
We reviewed the surgical decisions of 107 women postdisclosure of a BRCA VUS result counseled at our institute between 1998 and 2009.
CONCLUSION:
Among women receiving a BRCA VUS result at our center, 11 of 107 (10.3%) pursued cancer risk-reducing mastectomy and 22 of 107 (20.6%) pursued cancer risk-reducing bilateral salpingo-oophorectomy. Reclassification of VUS occurred up to 9 years after testing, and 5 of 22 (22.7%) women followed up for 8 or more years continue to have a VUS result. We discuss considerations for providers of genetic services to discuss with patients who receive a VUS result.
http://www.ncbi.nlm.nih.gov/pubmed/21811163


From: Genetic Epidemiology    2011
Assessment of Rare BRCA1 and BRCA2 Variants of Unknown Significance Using Hierarchial Modeling.
http://skiweb.mskcc.org/WeCare/Publication/2010_2011Published/6-Capanu%20et%20al%20BRCA%20Hierarchical%20variants%202011.pdf



Grateful for today..........Judy


Edited by Grateful for today - Jun 03 2013 at 10:32pm
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weekender09 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote weekender09 Quote  Post ReplyReply Direct Link To This Post Posted: Jun 05 2013 at 6:02pm
Thanks Judy.  As a VUS result person any and all updates are interesting.  
02/12/13 DX TNBC, Grade III, Stage 3, 3.3cm tumor, IMN and 1 lymph Positive, Chemo A/C T complete 6/13
BRCA1-/BRCA2+ Variance, BIL 7/13, 33 RADS complete 10/13 Remssion :)
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