Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families
| العنوان: | Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families |
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| المؤلفون: | Kenneth Offit, Beth Siegel, Ebunoluwa Otegbeye, Noah D. Kauff, Erin E. Salo-Mullen, Janice L. Berliner, Liying Zhang, Kim Amoroso, Emily Glogowski, Margaret Sheehan, Megan Harlan Fleischut, Angela G. Arnold, Mark E. Robson, Sherry R. Boyar, Zsofia K. Stadler |
| المصدر: | Breast Cancer Research and Treatment. 145:625-634 |
| بيانات النشر: | Springer Science and Business Media LLC, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Male, Risk, Proband, Oncology, Cancer Research, medicine.medical_specialty, Genetic counseling, Breast Neoplasms, Genetic Counseling, symbols.namesake, Breast cancer, Internal medicine, Humans, Medicine, Family, Genetic Predisposition to Disease, In patient, Genetic Testing, Family history, skin and connective tissue diseases, BRCA2 Protein, Gene Rearrangement, Ovarian Neoplasms, Sanger sequencing, Genetics, BRCA1 Protein, business.industry, medicine.disease, Pedigree, Mutation, Cohort, symbols, Female, business, Ovarian cancer |
| الوصف: | BRCA1/2 large rearrangement (LR) testing has been available to patients since 2006. Three existing models commonly used in cancer genetics clinical and research settings (BRCAPRO, Penn II and Myriad II) have not been assessed for their performance in predicting the presence of BRCA1/2 large genomic rearrangements in patients who do not have mutations detectable by the traditional Sanger sequencing approach. This study sought to determine if there is an optimal pre-test probability "cut off" value, calculated using these models, to optimize detection of large rearrangements (LRs). Our cohort consisted of 3,301 probands seen for genetic counseling and BRCA1/2 clinical testing from September 2006 to September 2011. A detailed personal and three-generation family history, including self-reported ethnicity, was taken as part of our standard clinical practice. We applied the BRCAPRO, Penn II, and Myriad II models to the probands with LRs. In our cohort of 3,301 probands, 150 carried a non-Ashkenazi mutation in BRCA1 or BRCA2. Seventeen unrelated probands carried a private BRCA1/2 LR (17/150, 11.3 % of all detectable non-AJ mutations). At a pre-test probability cutoff of 10 %, all three empiric risk models would have failed to identify almost 30 % of probands with LRs. Our study shows that BRCA1/2 LR testing should be offered to all women who meet criteria for BRCA1/2 sequence analysis. |
| تدمد: | 1573-7217 0167-6806 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7fc07c631b660a20699a476b74b08d7 https://doi.org/10.1007/s10549-014-2987-6 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....b7fc07c631b660a20699a476b74b08d7 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15737217 01676806 |
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