ArticleHuman genomics2019
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
Article in Human genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs.NAR genomics and bioinformatics · 2026Article
- Non-BRCA germline pathogenic variants and response to neoadjuvant systemic therapy in triple-negative breast cancer patients enrolled in a prospective clinical trial.Breast cancer research and treatment · 2026Article
- TP53 gene mutation in lymphoepithelioma‑like carcinoma of the breast with thyroid cancer: A case report.Oncology letters · 2025Article
- Analysis of disulfidptosis- and cuproptosis-related LncRNAs in modulating the immune microenvironment and chemosensitivity in colon adenocarcinoma.IET systems biology · 2024Article
- Improving efficacy of TNBC immunotherapy: based on analysis and subtyping of immune microenvironment.Frontiers in immunology · 2024Review
- Germline EGFR mutations in lung cancer (Review).Oncology letters · 2023Review
- Overcoming the Challenges of Phytochemicals in Triple Negative Breast Cancer Therapy: The Path Forward.Plants (Basel, Switzerland) · 2023Review
- Bioinformatic analyses reveal the prognostic significance and potential role of ankyrin 3 (ANK3) in kidney renal clear cell carcinoma.Genomics & informatics · 2023Article
- Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.Frontiers in genetics · 2023Article
- Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.Current treatment options in oncology · 2021Review
- Article
- FBI-1 enhanced the resistance of triple-negative breast cancer cells to chemotherapeutic agents via the miR-30c/PXR axis.Cell death & disease · 2020Article
- Interval breast cancer is associated with other types of tumors.Nature communications · 2019Article
- Review
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGermline BRCA1/2 prevalence is relatively low in sporadic triple-negative breast cancer (TNBC). We hypothesized that non-BRCA genes may also have significant germline contribution to Chinese sporadic TNBC, and the somatic mutational landscape of TNBC may vary between ethnic groups. We therefore conducted this study to investigate germline and somatic mutations in 43 cancer susceptibility genes in Chinese sporadic TNBC. PATIENTS AND
methodsSixty-six Chinese sporadic TNBC patients were enrolled in this study. Germline and tumor DNA of each patient were subjected to capture-based next-generation sequencing using a 43-gene panel. Standard bioinformatic analysis and variant classification were performed to identify deleterious/likely deleterious germline mutations and somatic mutations. Mutational analysis was conducted to identify significantly mutated genes.
resultsDeleterious/likely deleterious germline mutations were identified in 27 (27/66, 40.9%) patients. Among the 27 patients, 9 (9/66, 13.6%) were TP53 carriers, 5 (5/66, 7.6%) were MSH6 carriers, and 5 (5/66, 7.6%) were BRCA1 carriers. Somatic mutations were identified in 64 (64/66, 97.0%) patients. TP53 somatic mutations occurred in most of the patients (45/66, 68.2%) and with highest mean allele frequency (28.1%), while NF1 and POLE were detected to have the highest mutation counts.
conclusionsOur results supported our hypotheses and suggested great potentials of TP53 and MSH6 as novel candidates for TNBC predisposition genes. The high frequency of somatic NF1 and POLE mutations in this study showed possibilities for clinical benefits from androgen-blockade therapies and immunotherapies in Chinese TNBC patients. Our study indicated necessity of multi-gene testing for TNBC prevention and treatment.
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