ArticlePloS one2013
Assessment of SLX4 Mutations in Hereditary Breast Cancers.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 50 citations in OpenAlex.
- Article
- Research Advances in Drug Resistance Mechanisms to Anti-HER2 Therapy in HER2-Positive Breast Cancer.Oncology research · 2026Review
- Therapeutic challenges in HER2-targeted antibody therapies: trastuzumab and its ADC derivatives in breast cancer.American journal of cancer research · 2025Review
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- Antibody-Drug Conjugates (ADC) in HER2/neu-Positive Gynecologic Tumors.Molecules (Basel, Switzerland) · 2023Review
- Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.Breast cancer research : BCR · 2023Article
- Mechanisms of Resistance to Antibody-Drug Conjugates.International journal of molecular sciences · 2023Review
- Resistance to Antibody-Drug Conjugates Targeting HER2 in Breast Cancer: Molecular Landscape and Future Challenges.Cancers · 2023Review
- PARP Inhibitors and Proteins Interacting with SLX4.Cancers · 2023Review
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- New insights on familial colorectal cancer type X syndrome.Scientific reports · 2022Article
- Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.Frontiers in genetics · 2022Article
- Exploring the Structures and Functions of Macromolecular SLX4-Nuclease Complexes in Genome Stability.Frontiers in genetics · 2021Review
- Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.Cancers · 2020Article
- Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets.Frontiers in cell and developmental biology · 2020Review
- Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.International journal of cancer · 2019Article
- Quantitative proteome analysis of Merkel cell carcinoma cell lines using SILAC.Clinical proteomics · 2019Article
- DNA Repair Deficiency in Breast Cancer: Opportunities for Immunotherapy.Journal of oncology · 2019Review
- Deleterious Mutations in DNA Repair GeneFrontiers in oncology · 2019Article
- Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.Frontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundSLX4 encodes a DNA repair protein that regulates three structure-specific endonucleases and is necessary for resistance to DNA crosslinking agents, topoisomerase I and poly (ADP-ribose) polymerase (PARP) inhibitors. Recent studies have reported mutations in SLX4 in a new subtype of Fanconi anemia (FA), FA-P. Monoallelic defects in several FA genes are known to confer susceptibility to breast and ovarian cancers. METHODS AND
resultsTo determine if SLX4 is involved in breast cancer susceptibility, we sequenced the entire SLX4 coding region in 738 (270 Jewish and 468 non-Jewish) breast cancer patients with 2 or more family members affected by breast cancer and no known BRCA1 or BRCA2 mutations. We found a novel nonsense (c.2469G>A, p.W823*) mutation in one patient. In addition, we also found 51 missense variants [13 novel, 23 rare (MAF<0.1%), and 15 common (MAF>1%)], of which 22 (5 novel and 17 rare) were predicted to be damaging by Polyphen2 (score = 0.65-1). We performed functional complementation studies using p.W823* and 5 SLX4 variants (4 novel and 1 rare) cDNAs in a human SLX4-null fibroblast cell line, RA3331. While wild type SLX4 and all the other variants fully rescued the sensitivity to mitomycin C (MMC), campthothecin (CPT), and PARP inhibitor (Olaparib) the p.W823* SLX4 mutant failed to do so.
conclusionLoss-of-function mutations in SLX4 may contribute to the development of breast cancer in very rare cases.
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