ArticleBreast cancer (Tokyo, Japan)2019
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
Article in Breast cancer (Tokyo, Japan), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Reclassification ofEuropean journal of breast health · 2025Article
- Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspective.Journal of human genetics · 2025Article
- Reinterpretation of Conflicting ClinVarDiagnostics (Basel, Switzerland) · 2024Article
- Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.European journal of human genetics : EJHG · 2024Article
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.Cancer medicine · 2024Article
- Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.Familial cancer · 2024Review
- Review
- Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.International journal of molecular sciences · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
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- Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.European journal of human genetics : EJHG · 2023Article
- Comprehensive clinical characterization of patients withAnnals of surgical treatment and research · 2022Article
- Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.European journal of human genetics : EJHG · 2022Article
- Effects of Laparoscopic Hyperthermic Perfusion Therapy Combined with Adjuvant Treatment of Compound Yew Capsule on Ovarian Blood Flow Parameters and Immune Function in Patients with Ovarian Cancer.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Hereditary variants of unknown significance in African American women with breast cancer.PloS one · 2022Article
- Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.Breast cancer research and treatment · 2021Article
- Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.Scientific reports · 2021Article
- Characterization of SynonymousFrontiers in oncology · 2021Article
- Ovarian cancer risk assessment in the era of next-generation sequencing.Annals of translational medicine · 2020Review
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Abstract
backgroundAlthough BRCA1 or BRCA2 (BRCA1/2) genetic testing plays an important role in determining treatment modalities in patients with hereditary breast and ovarian cancer, sequence variants with unknown clinical significance or variant of uncertain significance (VUS) have limited use in medical decision-making. With vast quantities of gene-related data being updated, the clinical significance of VUS may change over time. We reinterpreted the sequence variant previously reported as BRCA1/2 VUS results in patients with breast or ovarian cancer and assessed whether the clinical significance of VUS was changed.
methodsWe retrospectively reviewed medical records of 423 breast or ovarian cancer patients who underwent BRCA1/2 genetic testing from 2010 to 2017. The VUSs in BRCA1/2 were reanalyzed using the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines (ACMG/AMP 2015 guidelines) and the VUS was reclassified into five categories: "pathogenic", "likely pathogenic", "VUS", "likely benign", and "benign".
resultsA total of 75 patients (48 sequence types of VUS) were identified as carrying either one or more VUS in BRCA1/2. Among the 75 patients, two patients (2.7%) were reclassified as "likely pathogenic", 30 patients (40.0%) were reclassified as either "benign" or "likely benign", and the remaining 43 patients (57.3%) were still classified as VUS category.
conclusionsSince the clinical significance of VUS in BRCA1/2 may vary from time to time, reinterpretation of the VUS results could contribute to clinical decision-making.
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