Document Detail


Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.
MedLine Citation:
PMID:  23323793     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Studies suggest that patients carrying a BRCA variant of uncertain significance (VUS) may have lingering confusion concerning results interpretation. Counseling for uninformative BRCA-negative (UN) results is thought to be more straightforward, despite the fact that both results lead to similar methods of empiric cancer risk counseling. This study compared surgical choices and perceptions between 71 patients with VUS results and 714 patients with UN results. All patients underwent genetic counseling because of a personal or family history of breast or ovarian cancer between 1997 and 2010, and completed a 2-year follow-up survey. Risk-reducing mastectomy rates in both groups were 7% (p = 1.00) and risk-reducing oophorectomy rates were 5% and 3%, respectively (p = 0.42). The VUS group reported less cancer distress reduction than the UN group (23.0% vs 35.8%, respectively, p = 0.043). Over 90% of both groups found the counseling process helpful. Overall, the study suggests that VUS results disclosed in genetic counseling did not cause excessive surgery or exaggerated cancer distress, though patients with a VUS found counseling somewhat less informative or reassuring. Future research on communication of VUS results, including pre-and post-test counseling, is essential for full realization of the potential for genomic medicine.
Authors:
J O Culver; C D Brinkerhoff; J Clague; K Yang; K E Singh; S R Sand; J N Weitzel
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2013-02-20
Journal Detail:
Title:  Clinical genetics     Volume:  84     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-10-17     Completed Date:  2014-06-03     Revised Date:  2014-11-04    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  464-72     Citation Subset:  IM    
Copyright Information:
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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MeSH Terms
Descriptor/Qualifier:
Adult
BRCA1 Protein / genetics*
BRCA2 Protein / genetics*
Breast Neoplasms / diagnosis,  genetics,  psychology*
Female
Follow-Up Studies
Genetic Counseling / psychology
Genetic Predisposition to Disease
Genetic Variation*
Humans
Mastectomy / psychology,  statistics & numerical data
Middle Aged
Ovarian Neoplasms / diagnosis,  genetics,  psychology*
Ovariectomy / psychology,  statistics & numerical data
Risk Assessment
Stress, Psychological*
Uncertainty
Grant Support
ID/Acronym/Agency:
R25 CA085771/CA/NCI NIH HHS; R25CA085771/CA/NCI NIH HHS; RC4 CA153828/CA/NCI NIH HHS; RC4CA153828/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/BRCA1 Protein; 0/BRCA1 protein, human; 0/BRCA2 Protein; 0/BRCA2 protein, human
Comments/Corrections

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