{"doi":"10.17615/8epg-4s68","title":"Genetic variation in the insulin, insulin-like growth factor, growth hormone, and leptin pathways in relation to breast cancer in African-American women: The AMBER consortium","abstract":"The insulin/insulin-like growth factor (IGF) system and related pathways such as growth hormone, and leptin signaling have a key role in cancer development. It is unclear how germline variation in these pathways affects breast cancer risk. We conducted gene-based analyses of 184 genes in the insulin/IGF, growth hormone, and leptin pathways to identify genetic variation associated with risk of breast cancer overall, and for estrogen receptor (ER) subtypes. Tag single-nucleotide polymorphisms (SNPs) for each gene were selected and genotyped on a customized Illumina SNP array. Imputation was carried out using 1000 Genomes haplotypes. The analysis included 91,627 SNPs genotyped or imputed in 3,663 breast cancer cases, (1,983 ER-positive and 1,098 ER-negative) and 4,687 controls from the African American Breast Cancer Epidemiology and Risk consortium, a collaborative project of four large studies of breast cancer in African-American women (Carolina Breast Cancer Study, Black Women's Health Study, Women's Circle of Health Study, and Multiethnic Cohort). We used a multi-locus adaptive joint test to determine the association of each gene with overall breast cancer and ER subtypes. The most significant gene associations (P ≤ 0.01) were BAIAP2 and CALM2 for overall breast cancer; BAIAP2 and CSNK2A1 for ER + breast cancer; and BRAF, BAD, and MAPK3 for ER − breast cancer. The association of BAD with ER − breast cancer was explained by a two-SNP risk model; all other associations were best explained by one-SNP risk models. In total, six genes and seven SNPs had suggestive associations with overall breast cancer or ER subtypes in African-American women.","journal":"UNC Libraries","year":2023,"id":410465,"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":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9578,"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":6443,"name":"Julie R. Palmer","orcid":"0000-0002-6534-335X","position":1,"is_corresponding":false},{"id":71791,"name":"Elisa V. Bandera","orcid":"0000-0002-8789-2755","position":2,"is_corresponding":false},{"id":481794,"name":"C.A. Haiman","orcid":null,"position":3,"is_corresponding":false},{"id":24988,"name":"Kathryn L. Lunetta","orcid":"0000-0002-9268-810X","position":4,"is_corresponding":false},{"id":1190811,"name":"Chul-hoon Hong","orcid":null,"position":5,"is_corresponding":false},{"id":453014,"name":"Edward Ruiz-Narváez","orcid":"0000-0002-0339-5824","position":6,"is_corresponding":false},{"id":453972,"name":"Stephen A. Haddad","orcid":null,"position":7,"is_corresponding":false},{"id":299782,"name":"Song Yao","orcid":"0000-0001-9442-1313","position":8,"is_corresponding":false},{"id":104611,"name":"Lynn Rosenberg","orcid":"0000-0003-2760-2987","position":9,"is_corresponding":false},{"id":367196,"name":"Jeannette T. Bensen","orcid":"0000-0003-4972-0087","position":10,"is_corresponding":false},{"id":270126,"name":"Melissa A. Troester","orcid":"0000-0001-9506-6624","position":11,"is_corresponding":false},{"id":294550,"name":"Christine B. Ambrosone","orcid":"0000-0003-1717-9943","position":12,"is_corresponding":false},{"id":1189151,"name":"Ting Cheng","orcid":"0000-0003-0779-4272","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:21:35.071397Z","pmid":null,"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":[]}