Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer
| العنوان: | Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer |
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| المؤلفون: | Prema P. Peethambaram, Patrick D. Fitz-Gibbon, Siddhartha Yadav, Daniela L. Stan, Sandhya Pruthi, Nicole P. Sandhu, Nicholas J. Boddicker, Sebastian M. Armasu, Judy C. Boughey, Karthik Ghosh, Janet E. Olson, Eric C. Polley, Christine L. Klassen, Kathryn J. Ruddy, Tufia C. Haddad, Deborah J. Rhodes, Rohan Gnanaolivu, Lonzetta Neal, Kun Y. Lee, Steven N. Hart, Matthew P. Goetz, Susan M. Domchek, Chunling Hu, Tanya L. Hoskin, Jie Na, Fergus J. Couch, Tricia Lindstrom |
| المصدر: | Journal of Clinical Oncology |
| بيانات النشر: | American Society of Clinical Oncology, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Oncology, Adult, Cancer Research, medicine.medical_specialty, Genetic Testing for Cancer, MEDLINE, Breast Neoplasms, Sensitivity and Specificity, Germline, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Breast cancer, Internal medicine, Medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, skin and connective tissue diseases, Germ-Line Mutation, Genetic testing, Aged, Aged, 80 and over, BRCA2 Protein, medicine.diagnostic_test, business.industry, BRCA1 Protein, Reproducibility of Results, Hospital based, ORIGINAL REPORTS, Middle Aged, medicine.disease, Hospitals, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, business, Fanconi Anemia Complementation Group N Protein |
| الوصف: | PURPOSE To determine the sensitivity and specificity of genetic testing criteria for the detection of germline pathogenic variants in women with breast cancer. MATERIALS AND METHODS Women with breast cancer enrolled in a breast cancer registry at a tertiary cancer center between 2000 and 2016 were evaluated for germline pathogenic variants in 9 breast cancer predisposition genes ( ATM , BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, and TP53). The performance of the National Comprehensive Cancer Network (NCCN) hereditary cancer testing criteria was evaluated relative to testing of all women as recommended by the American Society of Breast Surgeons. RESULTS Of 3,907 women, 1,872 (47.9%) meeting NCCN criteria were more likely to carry a pathogenic variant in 9 predisposition genes compared with women not meeting criteria (9.0% v 3.5%; P < .001). Of those not meeting criteria (n = 2,035), 14 (0.7%) had pathogenic variants in BRCA1 or BRCA2. The sensitivity of NCCN criteria was 70% for 9 predisposition genes and 87% for BRCA1 and BRCA2, with a specificity of 53%. Expansion of the NCCN criteria to include all women diagnosed with breast cancer at ≤ 65 years of age achieved > 90% sensitivity for the 9 predisposition genes and > 98% sensitivity for BRCA1 and BRCA2. CONCLUSION A substantial proportion of women with breast cancer carrying germline pathogenic variants in predisposition genes do not qualify for testing by NCCN criteria. Expansion of NCCN criteria to include all women diagnosed at ≤ 65 years of age improves the sensitivity of the selection criteria without requiring testing of all women with breast cancer. |
| اللغة: | English |
| تدمد: | 1527-7755 0732-183X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8faec2b0a6c83e8ce226384a50661bTest http://europepmc.org/articles/PMC7193748Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9b8faec2b0a6c83e8ce226384a50661b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15277755 0732183X |
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