{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aldersley J"],"funding":["NIDA NIH HHS","NIAID NIH HHS","NCI NIH HHS"],"pagination":["1308-1321"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8349846"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(8)"],"pubmed_abstract":["The incidence of anal squamous cell carcinoma (ASCC) has been increasing, particularly in populations with HIV. Human papillomavirus (HPV) is the causal factor in 85% to 90% of ASCCs, but few studies evaluated HPV genotypes and integrations in relation to genomic alterations in ASCC. Using whole-exome sequence data for primary (<i>n</i> = 56) and recurrent (<i>n</i> = 31) ASCC from 72 patients, we detected HPV DNA in 87.5% of ASCC, of which HPV-16, HPV-18, and HPV-6 were detected in 56%, 22%, and 33% of HIV-positive (<i>n</i> = 9) compared with 83%, 3.2%, and 1.6% of HIV-negative cases (<i>n</i> = 63), respectively. Recurrent copy-number variations (CNV) involving genes with documented roles in cancer included amplification of PI3KCA and deletion of APC in primary and recurrent tumors; amp"],"journal":["Molecular cancer research : MCR"],"pubmed_title":["Genomic Landscape of Primary and Recurrent Anal Squamous Cell Carcinomas in Relation to HPV Integration, Copy-Number Variation, and DNA Damage Response Genes."],"pmcid":["PMC8349846"],"funding_grant_id":["T32 AI007386","P50 CA127003","R01 DA040391"],"pubmed_authors":["Gabuzda D","Lorenz DR","Aldersley J","Mouw KW","D'Andrea AD"],"additional_accession":[]},"is_claimable":false,"name":"Genomic Landscape of Primary and Recurrent Anal Squamous Cell Carcinomas in Relation to HPV Integration, Copy-Number Variation, and DNA Damage Response Genes.","description":"The incidence of anal squamous cell carcinoma (ASCC) has been increasing, particularly in populations with HIV. Human papillomavirus (HPV) is the causal factor in 85% to 90% of ASCCs, but few studies evaluated HPV genotypes and integrations in relation to genomic alterations in ASCC. Using whole-exome sequence data for primary (<i>n</i> = 56) and recurrent (<i>n</i> = 31) ASCC from 72 patients, we detected HPV DNA in 87.5% of ASCC, of which HPV-16, HPV-18, and HPV-6 were detected in 56%, 22%, and 33% of HIV-positive (<i>n</i> = 9) compared with 83%, 3.2%, and 1.6% of HIV-negative cases (<i>n</i> = 63), respectively. Recurrent copy-number variations (CNV) involving genes with documented roles in cancer included amplification of PI3KCA and deletion of APC in primary and recurrent tumors; amp","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2026-05-08T18:00:17.358Z","creation":"2022-02-11T15:44:28.252Z"},"accession":"S-EPMC8349846","cross_references":{"pubmed":["33883185"],"doi":["10.1158/1541-7786.MCR-20-0884","10.1158/1541-7786.mcr-20-0884"]}}