ArticleBreast cancer research and treatment2013
Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
Article in Breast cancer research and treatment, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 46 citations in OpenAlex.
- Integrated Multi-Omics and Spatial Transcriptomics Reveal GUK1 as a Prognostic Biomarker Regulated by the TP53-HSF1 Axis in Breast Cancer.Oncology research · 2026Article
- Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.NPJ genomic medicine · 2025Article
- Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.Molecular genetics and genomics : MGG · 2025Article
- An Insight into Immunological Therapeutic Approach against Cancer: Potential Anti-cancer Vaccines.Current genomics · 2025Review
- Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.Journal of personalized medicine · 2024Article
- Article
- [Li-Fraumeni syndrome].Radiologie (Heidelberg, Germany) · 2022Review
- Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.Genes · 2022Article
- TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.Briefings in bioinformatics · 2022Article
- Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.BMC medical genomics · 2022Article
- Immunoprotective effect of an in silico designed multiepitope cancer vaccine with BORIS cancer-testis antigen target in a murine mammary carcinoma model.Scientific reports · 2021Article
- Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.Breast cancer (Tokyo, Japan) · 2021Review
- The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.Familial cancer · 2021Article
- Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.Journal of personalized medicine · 2021Article
- Histopathologic features of breast cancer in Li-Fraumeni syndrome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Efficacy of co-immunization with the DNA and peptide vaccines containing SYCP1 and ACRBP epitopes in a murine triple-negative breast cancer model.Human vaccines & immunotherapeutics · 2021Article
- Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?Breast cancer (Dove Medical Press) · 2021Review
- The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort.Journal of the National Cancer Institute · 2020Article
- GermlineCancers · 2020Review
- Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.Human mutation · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Breast cancer is the most frequent tumor in Li-Fraumeni syndrome (LFS), a rare inherited cancer syndrome associated with germline mutations in the TP53 gene. Recent data show that breast cancer in germline TP53 mutation carriers is commonly HER2+ (63-83 %). We assessed the prevalence of germline TP53 mutations in a cohort of women with HER2+ breast cancer diagnosed age ≤50 years. We identified blood specimens from 213 women with primary invasive HER2+ breast cancer age ≤50 years from a single center. Exon grouping analysis sequencing and multiplex ligation-dependent probe amplification techniques were used to screen for germline TP53 mutations. Among 213 women with HER2+ breast cancer age ≤50 years, 3 (ages at diagnosis 23, 32, 44 years) were found to carry a TP53 mutation (1.4 %, 95 % CI 0.3-4.1 %). ER/PR status was not uniform. Two TP53 carriers met Chompret criteria for LFS; none met classic LFS criteria. Although two-thirds of breast cancers in women with TP53 mutations are HER2+, we observed a low prevalence of germline TP53 mutations among unselected young women with HER2+ breast cancer. Given the potential clinical impact, consideration of germline TP53 testing should be given to young women with HER2+ breast cancer, especially if family cancer history is notable.
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