Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer
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- Siddhartha Yadav
- Department of Oncology, Mayo Clinic, Rochester, MN
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- Chunling Hu
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
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- Steven N. Hart
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Nicholas Boddicker
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Eric C. Polley
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Jie Na
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Rohan Gnanaolivu
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Kun Y. Lee
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
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- Tricia Lindstrom
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Sebastian Armasu
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Patrick Fitz-Gibbon
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Karthik Ghosh
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Daniela L. Stan
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Sandhya Pruthi
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Lonzetta Neal
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Nicole Sandhu
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Deborah J. Rhodes
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Christine Klassen
- Department of Medicine, Mayo Clinic, Rochester, MN
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- Prema P. Peethambaram
- Department of Oncology, Mayo Clinic, Rochester, MN
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- Tufia C. Haddad
- Department of Oncology, Mayo Clinic, Rochester, MN
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- Janet E. Olson
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Tanya L. Hoskin
- Department of Health Sciences Research, Mayo Clinic, Rochester, MN
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- Matthew P. Goetz
- Department of Oncology, Mayo Clinic, Rochester, MN
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- Susan M. Domchek
- Perelman School of Medicine, University of Pennsylvania, and Basser Center for BRCA, Philadelphia, PA
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- Judy C. Boughey
- Department of Surgery, Mayo Clinic, Rochester, MN
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- Kathryn J. Ruddy
- Department of Oncology, Mayo Clinic, Rochester, MN
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- Fergus J. Couch
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
説明
<jats:sec><jats:title>PURPOSE</jats:title><jats:p> To determine the sensitivity and specificity of genetic testing criteria for the detection of germline pathogenic variants in women with breast cancer. </jats:p></jats:sec><jats:sec><jats:title>MATERIALS AND METHODS</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p> 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. </jats:p></jats:sec>
収録刊行物
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- Journal of Clinical Oncology
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Journal of Clinical Oncology 38 (13), 1409-1418, 2020-05-01
American Society of Clinical Oncology (ASCO)