ArticleBMC cancer2018
Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.
Article in BMC cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Summary ofGenes · 2020Pooled it
- Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.Future science OA · 2025Article
- Prevalence Estimation of theCancers · 2024Article
- Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.Cancers · 2024Article
- Hereditary Cancer Screening and Outcomes at an Urban Safety-Net Hospital.JCO precision oncology · 2024Article
- Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.Familial cancer · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.Hereditary cancer in clinical practice · 2021Article
- Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.Breast cancer (Tokyo, Japan) · 2021Observational
- Review
- Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.Cancer science · 2020Article
- Literature Review ofGenes · 2020Review
- Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.Annals of laboratory medicine · 2020Article
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.Cancers · 2018Article
- Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.BMC cancer · 2018Article
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8 authors.
Funding
Abstract
backgroundWe evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes.
methodsSamples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations.
resultsNine patients (7.5%) had at least one pathogenic or likely pathogenic variant. Ten variants were identified in these patients: TP53 in two patients, PALB2 in three patients, BARD1 in two patients, BRIP1 in two patients, and MRE11A in one patient. We also identified 30 types of 139 variants of unknown significance (VUS). High-penetrance germline mutations, including TP53 and PALB2, tended to occur with high frequency in young (< 35 years) breast cancer patients (4/19, 21.1%) than in those diagnosed with breast cancer at ≥35 years of age (1/101, 1.0%; p = 0.003).
conclusionsThese combined results demonstrate that multigene panels offer an alternative strategy for identifying veiled pathogenic and likely pathogenic mutations in breast cancer susceptibility genes.
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