The Role of Histone Variants in Cancer

Pritchard, Antonia L.

doi:10.1007/978-981-13-8958-0_6

Cited by 2 publications

(1 citation statement)

References 85 publications

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“…ATRX acts with the histone chaperone DAXX to insert histone variant H3.3 (Nandakumar et al, 2017; Pritchard, 2019), and loss of ATRX leads to increased homologous recombination facilitating telomere destabilization and alternative lengthening of telomeres (ALT; Abedalthagafi et al, 2013; Dyer et al, 2017; Marinoni et al, 2014; Yuan et al, 2020). LoF mutations (1.7%) and copy loss (HD: 0.8%, 0 %; LoH: 20%, 0 %) were observed in AM at a similar frequency to CM, but are slightly more common in MM (3.7%), where they are associated with tumors of the lower anatomy (Broit et al, 2021) (Table 2).…”

Section: Resultsmentioning

confidence: 99%

Systematic review and meta‐analysis of genomic alterations in acral melanoma

Broit

Johansson

Rodgers

et al. 2022

Pigment Cell Melanoma Res

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Acral melanoma (AM) occurs on glabrous skin, the non-hair-bearing skin of the volar surfaces of the extremities, including palms, soles, fingers, toes, and nailbeds (subungual). The genomic aberrations in AM differ from the other subtypes of cutaneous melanoma (CM; nodular, lentigo maligna, and superficial spreading), notably in number and signatures of mutations, and the frequency of chromosomal rearrangements, such as copy-number alterations (CNAs) and structural variants (SV) (Hayward et al., 2017).

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Section: Resultsmentioning

confidence: 99%

Systematic review and meta‐analysis of genomic alterations in acral melanoma

Broit

Johansson

Rodgers

et al. 2022

Pigment Cell Melanoma Res

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Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma

Broit

Johansson

Rodgers

et al. 2021

Molecular Cancer Research

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Mucosal melanoma is a rare subtype of melanoma. To date, there has been no comprehensive systematic collation and statistical analysis of the aberrations and aggregated frequency of driver events across multiple studies. Published studies using whole genome, whole exome, targeted gene panel, or individual gene sequencing were identified. Datasets from these studies were collated to summarize mutations, structural variants, and regions of copy-number alteration. Studies using next-generation sequencing were divided into the “main” cohort (n = 173; fresh-frozen samples), “validation” cohort (n = 48; formalin-fixed, paraffin-embedded samples) and a second “validation” cohort comprised 104 tumors sequenced using a targeted panel. Studies assessing mutations in BRAF, KIT, and NRAS were summarized to assess hotspot mutations. Statistical analysis of the main cohort variant data revealed KIT, NF1, BRAF, NRAS, SF3B1, and SPRED1 as significantly mutated genes. ATRX and SF3B1 mutations occurred more commonly in lower anatomy melanomas and CTNNB1 in the upper anatomy. NF1, PTEN, CDKN2A, SPRED1, ATM, CHEK2, and ARID1B were commonly affected by chromosomal copy loss, while TERT, KIT, BRAF, YAP1, CDK4, CCND1, GAB2, MDM2, SKP2, and MITF were commonly amplified. Further notable genomic alterations occurring at lower frequencies indicated commonality of signaling networks in tumorigenesis, including MAPK, PI3K, Notch, Wnt/β-catenin, cell cycle, DNA repair, and telomere maintenance pathways. This analysis identified genomic aberrations that provide some insight to the way in which specific pathways may be disrupted. Implications: Our analysis has shown that mucosal melanomas have a diverse range of genomic alterations in several biological pathways.

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The Role of Histone Variants in Cancer

Cited by 2 publications

References 85 publications

Systematic review and meta‐analysis of genomic alterations in acral melanoma

Systematic review and meta‐analysis of genomic alterations in acral melanoma

Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma

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