Document Detail

Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
MedLine Citation:
PMID:  23615136     Owner:  NLM     Status:  In-Data-Review    
Hereditary breast cancer is responsible for about 5%-10% of all breast cancer cases and is frequently associated with the inheritance of a germline mutation in one of two genes, BRCA1 (chromosome 17) or BRCA2 (chromosome 13). Inheritance of a mutation in one of these genes confers a high cumulative risk of breast (90% lifetime risk) or ovarian (44% lifetime risk) cancer (Daly et al., 2013). To date, BRCA1 and BRCA2 genetic testing only is available through one company, Myriad Genetics Laboratories (MGL), as a result of patent issues surrounding these two genes. In 1996, MGL introduced Comprehensive BRACAnalysis®, which included the sequencing of BRCA1 and BRCA2. Because of technological advancement, MGL added a five-site rearrangement panel to Comprehensive BRACAnalysis in 2002 to detect five recurring large genomic rearrangements (LGR) in BRCA1. Additional technological advances led to the addition in 2006 of the BRACAnalysis Large Rearrangement Test (BART) as a separate but full LGR test for BRCA1 and BRCA2. The Comprehensive BRACAnalysis and BART tests were ordered as two distinct tests. In October 2012, Medicare approved BART as a reimbursable test, provided specific guidelines were met, based on the 2013 National Comprehensive Cancer Network guideline (Daly et al., 2013) recommending LGR testing for all patients undergoing testing for BRCA1 and BRCA2. Beginning in January 2013, MGL began incorporating BART testing into routine BRCA1 and BRCA2 testing, now termed Integrated BRACAnalysis (MGL, 2012).
Suzanne M Mahon
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Oncology nursing forum     Volume:  40     ISSN:  1538-0688     ISO Abbreviation:  Oncol Nurs Forum     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-04-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7809033     Medline TA:  Oncol Nurs Forum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  220-2     Citation Subset:  IM; N    
School of Nursing, Saint Louis University, Missouri.
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