ArticleCancer medicine2015
Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
Article in Cancer medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.Breast (Edinburgh, Scotland) · 2025Article
- Glial-to-mesenchymal transition of tumor Schwann cells drives the genetic burden in MPNSTs from neurofibromatosis type 1 mouse model.Science advances · 2025Article
- Co-occurrence of breast cancer and malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1.International cancer conference journal · 2025Article
- Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromas.Acta neuropathologica communications · 2023Article
- Epigenetic regulation of LINC01270 in breast cancer progression by mediating LAMA2 promoter methylation and MAPK signaling pathway.Cell biology and toxicology · 2023Article
- Paget disease of the breast with underlying invasive ductal cancer in neurofibromatosis type 1: a case report.Translational cancer research · 2023Article
- Lumbar malignant peripheral nerve sheath tumor: a rare case in a young patient.Acta bio-medica : Atenei Parmensis · 2022Article
- RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.Cellular oncology (Dordrecht, Netherlands) · 2021Article
- Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.Scientific reports · 2021Article
- Bioactive Compounds from Marine Heterobranchs.Marine drugs · 2020Review
- From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor.Genes · 2020Review
- Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.Gynecologic oncology reports · 2018Article
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.American journal of human genetics · 2018Article
- Marine Mollusk-Derived Agents with Antiproliferative Activity as Promising Anticancer Agents to Overcome Chemotherapy Resistance.Medicinal research reviews · 2017Review
- Article
- RASopathy Gene Mutations in Melanoma.The Journal of investigative dermatology · 2016Review
- A novel Markov Blanket-based repeated-fishing strategy for capturing phenotype-related biomarkers in big omics data.BMC genetics · 2016Article
- Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.Cancer medicine · 2015Article
- Breast Cancer and Multiple Primary Malignant Tumors: Case Report and Review of the Literature.In vivo (Athens, Greece)Review
- Neurofibromatosis Type 1 - Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review.Case reports in oncologyArticle
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple neurofibromas, cafe-au-lait spots, and Lisch nodules. Individuals with NF1 are at increased risk of developing various tumors, such as malignant peripheral nerve sheath tumor (MPNST), pheochromocytoma, leukemia, glioma, rhabdomyosarcoma, and breast cancer. Here, we describe the exome sequencing of breast cancer, MPNST, and neurofibroma from a patient with NF1. We identified a germline mutation in the NF1 gene which resulted in conversion of leucine to proline at amino acid position 847. In addition, we showed independent somatic NF1 mutations in all the three tumors (frameshift insertion in breast cancer (p.A985fs), missense mutation in MPNST (p.G23R), and inframe deletion in dermal neurofibroma (p.L1876del-Inf)), indicating that a second hit in NF1 resulting in the loss of function could be important for tumor formation. Each tumor had a distinct genomic profile with mutually exclusive mutations in different genes. Copy number analysis revealed multiple copy number alterations in the breast cancer and the MPNST, but not the benign neurofibroma. Germline loss of chromosome 6q22.33, which harbors two potential tumor suppressor genes, PTPRK and LAMA2, was also identified; this may increase tumor predisposition further. In the background of NF1 syndrome, although second-hit NF1 mutation is critical in tumorigenesis, different additional mutations are required to drive the formation of different tumors.
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