Please use this identifier to cite or link to this item: https://doi.org/10.1002/cam4.551
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dc.titleWhole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1
dc.contributor.authorMcPherson, J.R
dc.contributor.authorOng, C.-K
dc.contributor.authorNg, C.C.-Y
dc.contributor.authorRajasegaran, V
dc.contributor.authorHeng, H.-L
dc.contributor.authorYu, W.S.-S
dc.contributor.authorTan, B.K.-T
dc.contributor.authorMadhukumar, P
dc.contributor.authorTeo, M.C.-C
dc.contributor.authorNgeow, J
dc.contributor.authorThike, A.-A
dc.contributor.authorRozen, S.G
dc.contributor.authorTan, P.-H
dc.contributor.authorLee, A.-G
dc.contributor.authorTeh, B.-T
dc.contributor.authorYap, Y.-S
dc.date.accessioned2020-09-14T07:42:14Z
dc.date.available2020-09-14T07:42:14Z
dc.date.issued2015
dc.identifier.citationMcPherson, J.R, Ong, C.-K, Ng, C.C.-Y, Rajasegaran, V, Heng, H.-L, Yu, W.S.-S, Tan, B.K.-T, Madhukumar, P, Teo, M.C.-C, Ngeow, J, Thike, A.-A, Rozen, S.G, Tan, P.-H, Lee, A.-G, Teh, B.-T, Yap, Y.-S (2015). Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. Cancer Medicine 4 (12) : 1871-1878. ScholarBank@NUS Repository. https://doi.org/10.1002/cam4.551
dc.identifier.issn2045-7634
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/176006
dc.description.abstractNeurofibromatosis 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. © 2015 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
dc.sourceUnpaywall 20200831
dc.subjectneurofibromin
dc.subjecttamoxifen
dc.subjecttrastuzumab
dc.subjectadult
dc.subjectamino acid substitution
dc.subjectArticle
dc.subjectbreast cancer
dc.subjectcase report
dc.subjectchromosome 6q
dc.subjectchromosome loss
dc.subjectcopy number variation
dc.subjectexome
dc.subjectfemale
dc.subjectfluorescence in situ hybridization
dc.subjectgene mutation
dc.subjectheterozygosity loss
dc.subjecthigh throughput sequencing
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectindel mutation
dc.subjectmalignant peripheral nerve sheath tumor
dc.subjectneurofibroma
dc.subjectneurofibromatosis type 1
dc.subjectNF1 gene
dc.subjectpriority journal
dc.subjectskin tumor
dc.subjecttumor suppressor gene
dc.typeArticle
dc.contributor.departmentMICROBIOLOGY AND IMMUNOLOGY
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1002/cam4.551
dc.description.sourcetitleCancer Medicine
dc.description.volume4
dc.description.issue12
dc.description.page1871-1878
dc.published.statePublished
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