Results 41 to 50 of about 1,869,696 (352)

Two subtypes of cutaneous melanoma with distinct mutational signatures and clinico-genomic characteristics

Frontiers in Genetics, 2022
Background: To decipher mutational signatures and their associations with biological implications in cutaneous melanomas (CMs), including those with a low ultraviolet (UV) signature.Materials and Methods: We applied non-negative matrix factorization (NMF)
Yoon-Seob Kim, Yoon-Seob Kim, Yoon-Seob Kim, Minho Lee, Yeun-Jun Chung, Yeun-Jun Chung, Yeun-Jun Chung, Yeun-Jun Chung   +7 more
doaj   +1 more source

UV Signature Mutations [PDF]

Photochemistry and Photobiology, 2014
AbstractSequencing 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 ...
openaire   +2 more sources

Switching APOBEC mutation signatures [PDF]

Nature Reviews Genetics, 2019
Two studies report substantial temporal and spatial variability in mutagenic signatures caused by APOBEC cytidine deaminases in cancer.
openaire   +2 more sources

iMutSig: a web application to identify the most similar mutational signature using shiny [version 2; peer review: 2 approved]

F1000Research, 2020
There are two frameworks for characterizing mutational signatures which are commonly used to describe the nucleotide patterns that arise from mutational processes.
Zhi Yang, Priyatama Pandey, Paul Marjoram, Kimberly D. Siegmund   +3 more
doaj   +1 more source

A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance

Cancer Medicine, 2022
Background Mutational signatures are somatic mutation patterns enriching operational mutational processes, which can provide abundant information about the mechanism of cancer.
Zhenzhang Li, Haihua Liang, Shaoan Zhang, Wen Luo   +3 more
doaj   +1 more source

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications. [PDF]

Transl Oncol
Walker R, Joo JE, Mahmood K, Clendenning M, Como J, Preston SG, Joseland S, Pope BJ, Medeiros ABD, Murillo BV, Pachter N, Sweet K, Spigelman AD, Groves A, Gleeson M, Bernatowicz K, Poplawski N, Andrews L, Healey E, Gallinger S, Grant RC, Win AK, Hopper JL, Jenkins MA, Torrezan GT, Rosty C, Macrae FA, Winship IM, Buchanan DD, Georgeson P.   +29 more
europepmc   +2 more sources

Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data. [PDF]

, 2014
Breast cancer is one of the most commonly diagnosed cancers in women. While there are several effective therapies for breast cancer and important single gene prognostic/predictive markers, more than 40,000 women die from this disease every year.
Bainbridge, Matthew N, Brown, Powel H, Haricharan, Svasti, Scheet, Paul   +3 more
core   +1 more source

Performance Characteristics of Mutational Signature Analysis in Targeted Panel Sequencing.

Archives of Pathology & Laboratory Medicine, 2021
CONTEXT.— Mutational signatures have been described in the literature and a few centers have implemented pipelines for clinical reporting. OBJECTIVE.— To describe the performance of a mutational signature caller with clinical samples sequenced on a ...
Lauren Lawrence, C. Kunder, E. Fung, H. Stehr, J. Zehnder   +4 more
semanticscholar   +1 more source

Diffsig: Associating Risk Factors with Mutational Signatures

Cancer Epidemiology, Biomarkers & Prevention, 2023
Abstract Background: Somatic mutational signatures elucidate molecular vulnerabilities to therapy, and therefore detecting signatures and classifying tumors with respect to signatures has clinical value.
Ji-Eun Park, Markia A. Smith, Sarah C. Van Alsten, Andrea Walens, Di Wu, Katherine A. Hoadley, Melissa A. Troester, Michael I. Love   +7 more
openaire   +3 more sources

An extended APOBEC3A mutation signature in cancer [PDF]

Nature Communications, 2021
AbstractAPOBEC mutagenesis, a major driver of cancer evolution, is known for targeting TpC sites in DNA. Recently, we showed that APOBEC3A (A3A) targets DNA hairpin loops. Here, we show that DNA secondary structure is in fact an orthogonal influence on A3A substrate optimality and, surprisingly, can override the TpC sequence preference.
Adam Langenbucher, Danae Bowen, Ramin Sakhtemani, Elodie Bournique, Jillian F. Wise, Lee Zou, Ashok S. Bhagwat, Rémi Buisson, Michael S. Lawrence   +8 more
openaire   +6 more sources