ArticleAnnals of surgical oncology2020
Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
Article in Annals of surgical oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Molecular pathology of phyllodes tumours of the breast-much more than MED12.Histopathology · 2026Review
- Contemporary management of phyllodes tumours of the breast: recommendations from the UK Association of Breast Surgery.The British journal of surgery · 2025Article
- Phyllodes Tumor of the Breast: Histomorphological Transformation to High-Grade Tumor during Pregnancy and Challenging Oncoplastic Surgery.Breast care (Basel, Switzerland) · 2025Article
- Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.Breast cancer research and treatment · 2025Article
- ASO Author Reflections: The Management of Benign Phyllodes Tumors.Annals of surgical oncology · 2023Article
- Management of Benign Phyllodes Tumors: A Dutch Population-Based Retrospective Cohort Between 1989 and 2022.Annals of surgical oncology · 2023Article
- Phyllodes Tumors of the Breast: Addressing the Gaps in Consensus Recommendations for Clinical Management.Annals of surgical oncology · 2023Article
- Clinical outcomes and biomarkers of phyllodes tumors of the breast: A single-center retrospective study.Cancer medicine · 2023Article
- Article
- Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.Familial cancer · 2021Article
- Phyllodes tumor of the vulva: A case report and literature review highlighting a novel manifestation of Cowden syndrome.Gynecologic oncology reports · 2021Article
- Malignant Phyllodes Tumor of the Breast: A Practice Review.Clinics and practice · 2021Review
- Clinical Features of Breast Cancer in South Korean Patients with GermlineJournal of breast cancer · 2021Article
- Contemporary Multi-Institutional Cohort of 550 Cases of Phyllodes Tumors (2007-2017) Demonstrates a Need for More Individualized Margin Guidelines.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- GermlineCancers · 2020Review
- A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant.CA: a cancer journal for cliniciansArticle
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Authors and funding
13 authors.
Funding
Abstract
backgroundA paucity of data exists regarding inherited mutations associated with phyllodes tumors (PT); however, some are reported (TP53, BRCA1, and RB1). A PT diagnosis does not meet NCCN criteria for testing, including within Li-Fraumeni Syndrome (TP53). We sought to determine the prevalence of mutations associated with PT.
methodsWe performed an 11-institution review of contemporary (2007-2017) PT practice. We recorded multigenerational family history and personal history of genetic testing. We identified patients meeting NCCN criteria for genetic evaluation. Logistic regression estimated the association of select covariates with likelihood of undergoing genetic testing.
resultsOf 550 PT patients, 59.8% (n = 329) had a close family history of cancer, and 34.0% (n = 112) had ≥ 3 family members affected. Only 6.2% (n = 34) underwent genetic testing, 38.2% (n = 13) of whom had only BRCA1/BRCA2 tested. Of 34 patients tested, 8.8% had a deleterious mutation (1 BRCA1, 2 TP53), and 5.9% had a BRCA2 VUS. Of women who had TP53 testing (N = 21), 9.5% had a mutation. Selection for testing was not associated with age (odds ratio [OR] 1.01, p = 0.55) or PT size (p = 0.12) but was associated with grade (malignant vs. benign: OR 9.17, 95% CI 3.97-21.18) and meeting NCCN criteria (OR 3.43, 95% confidence interval 1.70-6.94). Notably, an additional 86 (15.6%) patients met NCCN criteria but had no genetic testing.
conclusionsVery few women with PT undergo germline testing; however, in those selected for testing, a deleterious mutation was identified in ~ 10%. Multigene testing of a PT cohort would present an opportunity to discover the true incidence of germline mutations in PT patients.
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