1. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
- Author
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Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, and Kaklamani VG
- Subjects
- Adenocarcinoma, Mucinous genetics, Adult, Black or African American genetics, Black or African American statistics & numerical data, Aged, Aged, 80 and over, Area Under Curve, Biomarkers, Tumor analysis, Breast Neoplasms ethnology, Breast Neoplasms pathology, Carcinoma, Ductal, Breast genetics, Carcinoma, Intraductal, Noninfiltrating genetics, Carcinoma, Lobular genetics, Caribbean Region ethnology, Europe ethnology, Female, Genetic Predisposition to Disease, Hispanic or Latino genetics, Hispanic or Latino statistics & numerical data, Humans, Jews genetics, Jews statistics & numerical data, Middle Aged, Mutation, Ovarian Neoplasms ethnology, Predictive Value of Tests, Risk, Transcription Factors, United States, White People genetics, White People statistics & numerical data, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, Carrier Proteins genetics, Exons genetics, Gene Deletion, Gene Duplication, Genes, BRCA1, Genes, BRCA2, Ovarian Neoplasms genetics
- Abstract
Background: Large rearrangements in BRCA1 and BRCA2 occur in a small percentage (< 1%) of patients tested for hereditary breast (BC) and ovarian cancer. It is unclear what factors predict BRACAnalysis Large Rearrangement Test (BART) positivity., Methods: Data from 6 centers were included in this analysis. Individuals with negative Comprehensive BRACAnalysis tested for BART were included., Results: From 1300 individuals, 42 (3.2%) were BART positivity. Factors positively associated with BART positivity were Myriad score, first-degree relatives with BC, infiltrating BC with ductal carcinoma in situ, younger age at BC diagnosis, estrogen receptor-negative BC for both the first and second BC, and Latin American/Caribbean ethnicity. Presence of unilateral BC was inversely associated with BART positivity. Several analyses were performed on the variables available to find the model that best predicts for BART positivity. The BART predictive model, including first BC, ovarian cancer, primary maternal ancestry being Latin America/Caribbean, number of first-degree relatives with BC of 1 or more versus 0, and family history of prostate and pancreatic cancer, had good predictive ability with an area under the curve of 0.77., Conclusions: Several factors are significantly associated with BART positivity. Among them we have found that Latin American/Caribbean ancestry, Myriad score, first degree relatives with BC, younger age at BC diagnosis, estrogen receptor-negative status of BC, and infiltrating ductal carcinoma with ductal carcinoma in situ features are significantly associated with BART positivity. A BART predictive model may help in a clinical setting., (© 2014 American Cancer Society.)
- Published
- 2014
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