{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hernandez-Verdin I"],"funding":["Institut National Du Cancer","Agence Nationale de la Recherche","Bicocca 2020 Starting Grant and by a Premio Giovani Talenti dell'Università degli Studi di Milano-Bicocca","ARTC foundation","Agence Nationale de la Recherche (French National Research Agency)","Institut National Du Cancer (French National Cancer Institute)"],"pagination":["89"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9715662"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(1)"],"pubmed_abstract":["Activation-induced cytidine deaminase, AICDA or AID, is a driver of somatic hypermutation and class-switch recombination in immunoglobulins. In addition, this deaminase belonging to the APOBEC family may have off-target effects genome-wide, but its effects at pan-cancer level are not well elucidated. Here, we used different pan-cancer datasets, totaling more than 50,000 samples analyzed by whole-genome, whole-exome, or targeted sequencing. AID mutations are present at pan-cancer level with higher frequency in hematological cancers and higher presence at transcriptionally active TAD domains. AID synergizes initial hotspot mutations by a second composite mutation. AID mutational load was found to be independently associated with a favorable outcome in immune-checkpoint inhibitors (ICI) treat"],"journal":["NPJ precision oncology"],"pubmed_title":["Pan-cancer landscape of AID-related mutations, composite mutations, and their potential role in the ICI response."],"pmcid":["PMC9715662"],"funding_grant_id":["ANR-10-IAIHU-06","SIRIC CURAMUS","SiRIC CURAMUS"],"pubmed_authors":["Alentorn A","Sanson M","Mokhtari K","Touat M","Akdemir KC","Duval A","Ramazzotti D","Peyre M","Idbaih A","Hernandez-Verdin I","Bielle F","Caravagna G","Labreche K","Hoang-Xuan K"],"additional_accession":[]},"is_claimable":false,"name":"Pan-cancer landscape of AID-related mutations, composite mutations, and their potential role in the ICI response.","description":"Activation-induced cytidine deaminase, AICDA or AID, is a driver of somatic hypermutation and class-switch recombination in immunoglobulins. In addition, this deaminase belonging to the APOBEC family may have off-target effects genome-wide, but its effects at pan-cancer level are not well elucidated. Here, we used different pan-cancer datasets, totaling more than 50,000 samples analyzed by whole-genome, whole-exome, or targeted sequencing. AID mutations are present at pan-cancer level with higher frequency in hematological cancers and higher presence at transcriptionally active TAD domains. AID synergizes initial hotspot mutations by a second composite mutation. AID mutational load was found to be independently associated with a favorable outcome in immune-checkpoint inhibitors (ICI) treat","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2026-05-10T06:35:53.733Z","creation":"2025-04-04T10:58:30.379Z"},"accession":"S-EPMC9715662","cross_references":{"pubmed":["36456685"],"doi":["10.1038/s41698-022-00331-2"]}}