Document Detail


Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions.
MedLine Citation:
PMID:  21811163     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Mitzi L Murray; Felecia Cerrato; Robin L Bennett; Gail P Jarvik
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-1
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  -     ISSN:  1530-0366     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-8-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
From the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington.
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