2018
DOI: 10.1038/emm.2017.265
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Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva

Abstract: Vulvar squamous cell carcinoma (SCC) consists of two different etiologic categories: human papilloma virus (HPV)-associated (HPV (+)) and HPV-non-associated (HPV (−)). There have been no genome-wide studies on the genetic alterations of vulvar SCCs or on the differences between HPV (+) and HPV (−) vulvar SCCs. In this study, we performed whole-exome sequencing and copy number profiling of 6 HPV (+) and 9 HPV (−) vulvar SCCs and found known mutations (TP53, CDKN2A and HRAS) and copy number alterations (CNAs) (7… Show more

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Cited by 44 publications
(48 citation statements)
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“…Similar rates of pathogenic mutations were detected in hrHPV(+) VSCC tumors and the hrHPV independent tumors (65% and 59%), which is inconsistent with previous reports by Trietch et al [11] and by Han et al [14] that described significantly lower mutation frequencies in HPV-positive vulvar cancers. On the other hand, Nooij et al and Weberpals et al observed slightly lower mutation rates in both HPVpositive (86% and 73% [15,16]) than in HPV-negative VSSC tumor samples (90% [15,16]).…”
Section: Discussioncontrasting
confidence: 89%
See 1 more Smart Citation
“…Similar rates of pathogenic mutations were detected in hrHPV(+) VSCC tumors and the hrHPV independent tumors (65% and 59%), which is inconsistent with previous reports by Trietch et al [11] and by Han et al [14] that described significantly lower mutation frequencies in HPV-positive vulvar cancers. On the other hand, Nooij et al and Weberpals et al observed slightly lower mutation rates in both HPVpositive (86% and 73% [15,16]) than in HPV-negative VSSC tumor samples (90% [15,16]).…”
Section: Discussioncontrasting
confidence: 89%
“…The mutational patterns of VSCC cannot be reliably compared between the reported studies due to different methods used and different numbers of genes examined, i.e. Sanger sequencing has been applied for TP53 and MALDI-TOF mass spectrometry based genotyping for 13-gene analysis reported by Trietch et al [11], NGS for 17 genes by Nooij et al [15], whole-exome sequencing by Han et al [14] and the same NGS method as the one used in our study by Weberpals et al [16]. In addition, different cohorts and relatively small sample sets have been investigated.…”
Section: Discussionmentioning
confidence: 99%
“…The overall frequency of mutated TrkC in cancer types. cSCC [50], DM [51], CM: TCGA Dataset, BCC: [52], LA: [53], EC: TCGA Dataset, VV-SCC: [54], NSCLC: [55], UTUC [56], CTCL: [57], AS:…”
Section: Somatic Mutations Of Trkc In Cancermentioning
confidence: 99%
“…TCGA Dataset, CRC: [58], GC: TCGA Dataset, CSCC: TCGA Dataset, EAC: [59], HNC: TCGA Dataset, RMS: [60], PAC: [61], DLBCL: TCGA Dataset, HCC: TCGA Dataset, AC: Ampullary carcinoma [62], UCS: TCGA Dataset, BUC: TCGA Dataset, RCC: TCGA Dataset, PA: [63], CC: [64], GC: [65], PDTC & ATC: [66,67], OSC: TCGA Dataset, BC: [68], CCRCC: TCGA Dataset, CLL: [69], DG: [70]. [50], DM [51], CM: TCGA Dataset, BCC: [52], LA: [53], EC: TCGA Dataset, VV-SCC: [54], NSCLC: [55], UTUC [56], CTCL: [57], AS: TCGA Dataset, CRC: [58], GC: TCGA Dataset, CSCC: TCGA Dataset, EAC: [59], HNC: TCGA Dataset, RMS: [60], PAC: [61], DLBCL: TCGA Dataset, HCC: TCGA Dataset, AC: Ampullary carcinoma [62], UCS: TCGA Dataset, BUC: TCGA Dataset, RCC: TCGA Dataset, PA: [63], CC: [64], GC: [65], PDTC & ATC: [66,67], OSC: TCGA Dataset, BC: [68], CCRCC: TCGA Dataset, CLL: [69], DG: [70].…”
Section: Somatic Mutations Of Trkc In Cancermentioning
confidence: 99%
“…If similarity is observed with more than one reference signature, the one with the largest value of similarity is chosen, supplementary Figure 1. This assignment step crucially depends on the choice of the cut-off ℎ that has been so far inconsistent in the literature with some studies using a value of 0.75 [7] whereas others 0.80 [15,16]. Another difficulty is that different signatures might have very close cosine similarity, as it happens also between COSMIC signatures, supplementary Figure 2, so that a unique assignment is not always possible.…”
Section: Mathematical Definition Of Mutational Catalogues and Signaturesmentioning
confidence: 99%