{"doi":"10.1002/pbc.30643","title":"Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors","abstract":"Utilization of tumor-only sequencing has expanded in pediatric cancer patients, which can lead to identification of pathogenic variants in genes that may be germline and/or have uncertain relevance to the tumor in question, such as the homologous recombination (HR) pathway genes BRCA1/2. We identified patients with pathogenic BRCA1/2 mutations from somatic tumor sequencing, and performed additional germline sequencing to assess for the presence of loss of heterozygosity (LOH). Of seven patients identified, four (57.1%) mutations were found in the germline and none had associated LOH. Our data suggest that BRCA1/2 mutations identified in this context are likely incidental findings.","journal":"Pediatric Blood & Cancer","year":2023,"id":365966,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9023,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":349158,"name":"Abigail Ward","orcid":null,"position":1,"is_corresponding":false},{"id":244197,"name":"Yvonne Y. Li","orcid":null,"position":2,"is_corresponding":false},{"id":386177,"name":"Lorena Lazo de la Vega","orcid":"0000-0003-3609-0098","position":3,"is_corresponding":false},{"id":558516,"name":"Anwesha Nag","orcid":"0000-0002-1947-7429","position":4,"is_corresponding":false},{"id":321121,"name":"Suzanne J. Forrest","orcid":"0000-0002-9797-7947","position":5,"is_corresponding":false},{"id":307244,"name":"Hersh Gupta","orcid":"0000-0002-5136-6403","position":6,"is_corresponding":false},{"id":55261,"name":"Aaron R. Thorner","orcid":"0000-0002-9160-7881","position":7,"is_corresponding":false},{"id":107871,"name":"Matthew Meyerson","orcid":"0000-0002-9133-8108","position":8,"is_corresponding":false},{"id":879729,"name":"Junne Kamihara","orcid":"0000-0002-2852-7387","position":9,"is_corresponding":false},{"id":13344,"name":"Andrew D. Cherniack","orcid":"0000-0003-0470-0111","position":10,"is_corresponding":false},{"id":346979,"name":"Katherine A. Janeway","orcid":"0000-0001-6000-3594","position":11,"is_corresponding":false},{"id":5516,"name":"Andrew Groves","orcid":"0000-0002-1239-3839","position":0,"is_corresponding":true}],"reference_count":38,"raw_metadata":null,"created_at":"2026-07-19T01:14:50.885797Z","pmid":"37596911","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}