دورية أكاديمية
Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
| العنوان: | Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer. |
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| المؤلفون: | Kapoor NS; Department of Surgical Oncology, Breastlink, Orange, CA, USA, nimsikapoor@gmail.com., Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, Banks KC |
| المصدر: | Annals of surgical oncology [Ann Surg Oncol] 2015 Oct; Vol. 22 (10), pp. 3282-8. Date of Electronic Publication: 2015 Jul 29. |
| نوع المنشور: | Clinical Trial; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: United States NLM ID: 9420840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4681 (Electronic) Linking ISSN: 10689265 NLM ISO Abbreviation: Ann Surg Oncol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2005- : New York, NY : Springer Original Publication: New York, NY : Raven Press, c1994- |
| مواضيع طبية MeSH: | Genetic Predisposition to Disease*, BRCA1 Protein/*genetics , BRCA2 Protein/*genetics , Biomarkers, Tumor/*genetics , Genetic Testing/*methods , Mutation/*genetics, Ataxia Telangiectasia Mutated Proteins/genetics ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Checkpoint Kinase 2/genetics ; DNA Mutational Analysis/methods ; Fanconi Anemia Complementation Group N Protein ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Multigene Family ; Neoplasm Staging ; Nuclear Proteins/genetics ; Patient Selection ; Precision Medicine ; Prognosis ; Retrospective Studies ; Risk Factors ; Tumor Suppressor Proteins/genetics |
| مستخلص: | Background: Recently introduced multigene panel testing including BRCA1 and BRCA2 genes for hereditary cancer risk has raised concerns with the ability to detect all deleterious BRCA1/2 mutations compared to older methods of sequentially testing BRCA1/2 separately. The purpose of this study was to evaluate rates of pathogenic BRCA1/2 mutations and variants of uncertain significance (VUS) between previous restricted algorithms of genetic testing and newer approaches of multigene testing. Methods: Data was collected retrospectively from 966 patients who underwent genetic testing at one of three sites from a single institution. Test results were compared between patients who underwent BRCA1/2 testing only (limited group, n = 629) to those who underwent multigene testing with 5-43 cancer-related genes (panel group, n = 337). Results: Deleterious BRCA1/2 mutations were identified in 37 patients, with equivalent rates between limited and panel groups (4.0 vs. 3.6%, respectively, p = 0.86). Thirty-nine patients had a BRCA1/2 VUS, with similar rates between limited and panel groups (4.5 vs. 3.3%, respectively, p = 0.49). On multivariate analysis, there was no difference in detection of either BRCA1/2 mutations or VUS between both groups. Of patients undergoing panel testing, an additional 3.9 % (n = 13) had non-BRCA pathogenic mutations and 13.4% (n = 45) had non-BRCA VUSs. Mutations in PALB2, CHEK2, and ATM were the most common non-BRCA mutations identified. Conclusions: Multigene panel testing detects pathogenic BRCA1/2 mutations at equivalent rates as limited testing and increases the diagnostic yield. Panel testing increases the VUS rate, mainly as a result of non-BRCA genes. Patients at risk for hereditary breast cancer can safely benefit from up-front, more efficient, multigene panel testing. |
| المشرفين على المادة: | 0 (BRCA1 Protein) 0 (BRCA1 protein, human) 0 (BRCA2 Protein) 0 (BRCA2 protein, human) 0 (Biomarkers, Tumor) 0 (Fanconi Anemia Complementation Group N Protein) 0 (Nuclear Proteins) 0 (PALB2 protein, human) 0 (Tumor Suppressor Proteins) EC 2.7.1.11 (Checkpoint Kinase 2) EC 2.7.11.1 (ATM protein, human) EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins) EC 2.7.11.1 (CHEK2 protein, human) |
| SCR Disease Name: | Breast Cancer, Familial |
| تواريخ الأحداث: | Date Created: 20150730 Date Completed: 20160628 Latest Revision: 20220317 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1245/s10434-015-4754-2 |
| PMID: | 26219241 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1534-4681 |
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| DOI: | 10.1245/s10434-015-4754-2 |