ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2020
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- PARP-inhibitors for BRCA1/2-related advanced HER2-negative breast cancer: A meta-analysis and GRADE recommendations by the Italian Association of Medical Oncology.Breast (Edinburgh, Scotland) · 2022Pooled it
- A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer.Annals of surgical oncology · 2023Trial
- Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.BMC cancer · 2026Article
- Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Clinical Performance of International and Korean Genetic Testing Criteria for Hereditary Breast Cancer: A Large-Scale Cohort Analysis of 2,188 Individuals.Journal of breast cancer · 2026Article
- Article
- GermlinePathology oncology research : POR · 2026Article
- Developing a multidisciplinary pediatric cancer predisposition service at a mid-sized children's hospital.Frontiers in oncology · 2026Article
- Clinicopathologic features and contralateral breast cancer risk in BRCA1/2 pathogenic variant carriers: a multicenter registry study of Japanese women.Breast cancer research and treatment · 2025Article
- Analyzing the Gaps in Breast Cancer Diagnostics in Poland-A Retrospective Observational Study in the Data Donation Model.Diagnostics (Basel, Switzerland) · 2025Article
- An Explainable Multimodal Artificial Intelligence Model Integrating Histopathological Microenvironment and EHR Phenotypes for Germline Genetic Testing in Breast Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Predicting the likelihood of carrying BRCA1 or BRCA2 pathogenic variants in high-risk Pakistani breast cancer patients.Breast cancer research and treatment · 2025Article
- Genetic testing referral and germline pathogenic variants in patients with breast cancer and another non-breast cancer.Cancer genetics · 2025Article
- Oncotype DX Recurrence Score and Germline BRCA Variants in Patients with HR-Positive/HER2-Negative Early Breast Cancer: A Retrospective Observational Study.Oncology and therapy · 2025Article
- Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action.Current oncology (Toronto, Ont.) · 2025Article
- Clinical Predictors of Inherited Breast Cancer at a Comprehensive Cancer Centre in Oman:Sultan Qaboos University medical journal · 2025Article
- Breast Cancer Risk Modification in Women with Pathogenic Variants in BRCA1, BRCA2, ATM, CHEK2, and PALB2.Cancer research communications · 2025Article
- Real-World Evidence on Prescribing Patterns and Clinical Outcomes of Metastatic Breast Cancer Patients Treated with PARP Inhibitors: The Mayo Clinic Experience.Clinical breast cancer · 2025Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo determine the sensitivity and specificity of genetic testing criteria for the detection of germline pathogenic variants in women with breast cancer. MATERIALS AND
methodsWomen 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 (
resultsOf 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%
conclusionA 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.
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