ArticleCancer research and treatment2020
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
Article in Cancer research and treatment, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Pathogenicity Prediction of Missense Variations in Hereditary Cancer Genes.International journal of molecular sciences · 2026Article
- Risk-Reducing Mastectomy inJournal of breast cancer · 2026Review
- Informatics at the Frontier of Cancer Research.Cancer research · 2025Review
- Illuminating Bilateral Breast Cancer: A Multicenter Experience and Clinical Observations.Medicina (Kaunas, Lithuania) · 2025Article
- Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.Discover oncology · 2025Review
- Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.Scientific reports · 2025Article
- The Genomic and Biologic Landscapes of Breast Cancer and Racial Differences.International journal of molecular sciences · 2024Review
- Genetic Testing Among Breast Cancer Patients in the Eastern Region of Saudi Arabia: Single-Center Experience.Journal of epidemiology and global health · 2024Article
- Towards targeting the breast cancer immune microenvironment.Nature reviews. Cancer · 2024Review
- Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing.Molecular oncology · 2024Article
- Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.NPJ genomic medicine · 2024Article
- Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine.Cancer research and treatment · 2024Article
- Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients.Breast cancer research and treatment · 2023Article
- A study of clinical and molecular characteristics in bilateral primary breast cancer.Cancer medicine · 2023Article
- Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.Frontiers in genetics · 2023Article
- Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.PloS one · 2023Article
- Article
- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.Diagnostics (Basel, Switzerland) · 2022Article
- Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.Journal of human genetics · 2022Article
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
purposeHereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an next-generation sequencing (NGS)-based multiple-gene panel containing 64 cancer-predisposing genes in Korean breast cancer patients with clinical features of hereditary breast and ovarian cancer syndrome (HBOC). MATERIALS AND
methodsA total of 64 genes associated with hereditary cancer syndrome were selected for development of an NGS-based multi-gene panel. Targeted sequencing using the multi-gene panel was performed to identify germline mutations in 496 breast cancer patients with clinical features of HBOC who underwent breast cancer surgery between January 2002 and December 2017.
resultsOf 496 patients, 95 patients (19.2%) were found to have 48 deleterious germline mutations in 16 cancer susceptibility genes. The deleterious mutations were found in 39 of 250 patients (15.6%) who had breast cancer and another primary cancer, 38 of 169 patients (22.5%) who had a family history of breast cancer (≥ 2 relatives), 16 of 57 patients (28.1%) who had bilateral breast cancer, and 29 of 84 patients (34.5%) who were diagnosed with breast cancer at younger than 40 years of age. Of the 95 patients with deleterious mutations, 60 patients (63.2%) had BRCA1/2 mutations and 38 patients (40.0%) had non-BRCA1/2 mutations. We detected two novel deleterious mutations in BRCA2 and MLH1.
conclusionNGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment.
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