We analyzed MBD4 in 728 patients with CRC, polyposis, and other suggestive phenotypes. 8 CRC patients carried rare homozygous or heterozygous germline variants in MBD4, but tumor mutational signature analysis showed no MBD4 deficiency. ➡️MANS is indeed VERY RARE

Read the paper for details and check the analysis of mutational signatures (useful tips to unequivocally identify MBD4 deficiency based on MutSigs). SBS1 vs. SBS96 rdcu.be/df0nW

Mutational signatures reveal mutual exclusivity of homologous recombination and mismatch repair deficiencies in colorectal and stomach tumors pubmed.ncbi.nlm.nih.gov/37393385/

In this video, Dr Alison Berner speaks about the developments being made in the analysis of mutational signatures in tumour DNA and how it's leading to the use of personalised medicines. Watch it here: orlo.uk/0XnUe #ClinicalGeneticsinAction #genomics #ColorectalCancer

Serena Nik-Zainal speaking on her work on maximising the value of genomic information and mutational signatures to understand cancer #milnersymp23

Distinct Genomic Landscape of Lung Adenocarcinoma from Household Use of Smoky Coal.... doi.org/10.1164/rccm.2…

Our manuscript on reliability of panel-based mutational signatures for ICI efficacy in NSCLC is now online. Jessa Ziekenhuis Jessa & Wetenschap LCRC Longartsen Hasselt UMCG The Netherlands Cancer Institute Lung Cancer Journal sciencedirect.com/science/articl…

Mutational Signatures: The dysferlin C2A domain binds PI(4,5)P2 and penetrates membranes dlvr.it/SrpptB

Mutational Signatures: Therapy-induced APOBEC3A drives evolution of persistent cancer cells dlvr.it/SrqJf1

Mutational Signatures: A novel stemness classification in acute myeloid leukemia by the stemness index and the identification of cancer stem cell-related biomarkers dlvr.it/Srqmv3

Mutational Signatures: Implications of inflammatory cell death-related IFNG and co-expressed RNAs (AC006369.1 and CCR7) in breast carcinoma prognosis, and anti-tumor immunity dlvr.it/SrsXpY

#WCGIC2023 I Highlight on colorectal cancer with Dr. Timon Vandamme 📍 Use of ctDNA as a tool for guiding treatment decisions 📍 Mutational signatures and the role of Homologous Recombination Deficiency alterations 📺 Watch the video ➡️bit.ly/46FQLLP

Mutational Signatures: New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions dlvr.it/SrxNx1

Mutational Signatures: Outlier expression of isoforms by targeted or total RNA sequencing identifies clinically significant genomic variants in hematolymphoid tumors dlvr.it/Srxq9h

Mutational Signatures: SARS-CoV-2 Nsp1 mediated mRNA degradation requires mRNA interaction with the ribosome dlvr.it/SryGRf

Mutational Signatures: Construction and validation of a cuproptosis-related five-lncRNA signature for predicting prognosis, immune response and drug sensitivity in breast cancer dlvr.it/SrykhX

Mutational Signatures: Affinity-enhanced RNA-binding domains as tools to understand RNA recognition dlvr.it/Ss1ZPZ

Steve Massey @EmaNymton90 CD8 * @edwardcholmes Katherine J. Wu, Ph.D. Florian Schumann Natasha Loder 🦋🐝 Roland Pease Ralf Reski 🇩🇪🇪🇺 You can get clues to how long DNA has been exposed to the environment due to cytosine deamination or 8-oxoG. I’m not sure how quantitative it would be, especially knowing they bleached the place. Would just be interesting to look at the raw read low level mutational signatures.

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment biorxiv.org/cgi/content/sh… #bioRxiv

Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment biorxiv.org/cgi/content/sh… #biorxiv_bioinfo