UV Signature Mutations

Abstract Sequencing complete tumor genomes and exomes has sparked the cancer field's interest in mutation signatures for identifying the tumor's carcinogen. This review and meta‐analysis discusses signatures and their proper use. We first distinguish between a mutagen's canonical mutations—deviations from a random distribution of base changes to create a pattern typical of that mutagen—and the subset of signature mutations, which are unique to that mutagen and permit inference backward from mutations to mutagen. To verify UV signature mutations, we assembled literature datasets on cells exposed to UVC, UVB, UVA, or solar simulator light (SSL) and tested canonical UV mutation features as criteria for clustering datasets. A confirmed UV signature was: ≥60% of mutations are C→T at a dipyrimidine site, with ≥5% CC→TT. Other canonical features such as a bias for mutations on the nontranscribed strand or at the 3′ pyrimidine had limited application. The most robust classifier combined these features with criteria for the rarity of non‐UV canonical mutations. In addition, several signatures proposed for specific UV wavelengths were limited to specific genes or species; UV's nonsignature mutations may cause melanoma BRAF mutations; and the mutagen for sunlight‐related skin neoplasms may vary between continents. Inverse relationship of canonical mutation patterns and mutation signatures for inferring the mutagen from mutations. Two mutagens are...
Source: Photochemistry and Photobiology - Category: Science Authors: Tags: Invited Review Source Type: research

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We appreciate the interest that Roncati and Piscioli showed in our recent publication, in which we evaluated the risk of sentinel lymph node (SLN) metastases in nonulcerated, T1b melanoma by the new 8th edition American Joint Committee on Cancer (AJCC) staging criteria.1 The authors propose a model of melanoma progression based on the transition from a radial growth phase to a vertical growth phase (VGP) that can predict biologic aggressiveness and propensity to metastasize.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Letter Source Type: research
In comparison with the 7th Edition, the 8th Edition of the American Joint Committee on Cancer (AJCC) staging system for melanoma no longer considers the mitotic count in the a or b T1 categorization, but it adopts a sub-stratification based on Breslow depth: T1a ≤ 0.8 mm without ulceration and T1b ≤ 0.8 mm with ulceration or 0.8 to 1 mm with or without ulceration. Skin melanoma can be subdivided by Breslow depth into thin melanoma (≤1 mm) or thick melanoma (>1  mm). According to the AJCC 8th Edition, a and b specifications are assigned based on ulceration and depth, which replace the mitotic count for square millimeter.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Letter Source Type: research
Conclusions: Whereas in myelodysplastic syndrome predominantly missense SRSF2 mutations are described, the observed SRSF2 mutations in UM are all in-frame deletions of 8–9 amino acids. This suggests that the R625 missense SF3B1 mutations and SRSF2 mutations in UM are different compared to the spliceosome gene mutations in hematological cancers, and probably target a different, as yet unknown, set of genes involved in uveal melanoma etiology.
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Communication Source Type: research
We describe a case series of nine patients with metastatic melanoma and injectable lesions who developed progressive disease under a PD-1 inhibitor monotherapy. At the time of progressive disease, patients received intratumoral IL-2 treatment in addition to PD-1 inhibitor therapy. Three patients showed complete, three patients partial response and three patients progressive disease upon this combination therapy. IHC stainings were performed from metastases available at baseline (start of PD-1 inhibitor) and under combination therapy with IL-2. IHC results revealed a significant increase of CD4+ and CD8+ T cells and a highe...
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
Authors: Hao J, Li S, Li J, Jiang Z, Ghaffar M, Wang M, Jia R, Chen S, Wang Y, Zeng Y Abstract Esophageal carcinoma (EC) is the sixth most deadly of all cancers. It is among the most malignant cancers due to its highly aggressive nature and low survival rate. The incidence of EC is high in Asia, particularly in Southern areas including China, Iran and Japan. There is a large body of evidence to suggest an association between the melanoma antigen gene (MAGE) family and the initiation of cancer; however, there is no clear evidence to suggest an association between EC and MAGE. Discovery of the chemical and physiologi...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
rner Niels Schaft Chimeric antigen receptor (CAR)-T cells already showed impressive clinical regressions in leukemia and lymphoma. However, the development of CAR-T cells against solid tumors lags behind. Here we present the clinical-scale production of CAR-T cells for the treatment of melanoma under full GMP compliance. In this approach a CAR, specific for chondroitin sulfate proteoglycan 4 (CSPG4) is intentionally transiently expressed by mRNA electroporation for safety reasons. The clinical-scale protocol was optimized for: (i) expansion of T cells, (ii) electroporation efficiency, (iii) viability, (iv) cryopreser...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Technical Note Source Type: research
In this study we further explored the associations of these with melanoma, in addition to deprivation and socio-economic stressors. In this analysis of 2183 population-ascertained primary cutaneous melanoma patients; clinical, demographic and socio-economic variables were assessed as predictors of tumour thickness, melanoma death and overall death.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
ConclusionPublic health strategies targeting this vulnerable group are currently needed in the Canary Islands (Spain).
Source: Cancer Epidemiology - Category: Cancer & Oncology Source Type: research
In conclusion, ITCH may downregulate GLUT1 and suppresses glucose uptake in melanoma to inhibit cancer cell proliferation. PMID: 31403357 [PubMed - as supplied by publisher]
Source: Journal of Dermatological Treatment - Category: Dermatology Tags: J Dermatolog Treat Source Type: research
FINDINGSCancer that has spread to the central nervous system is notoriously difficult to treat. Now, UCLA researchers have developed a drug delivery system that breaks through the blood-brain barrier in order to reach and treat cancer that has spread to the central nervous system.In research conducted in mice, a single dose of cancer drugs in a nanoscale capsule developed by the scientists eliminated all B-cell lymphoma that had metastasized to the animals ’ central nervous system.BACKGROUNDAbout 15% to 40% of all cancers spread to the nervous system, but there are few treatment options and they only work in a small ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
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