{"doi":"10.1016/j.gde.2015.01.004","title":"From candidate gene studies to GWAS and post-GWAS analyses in breast cancer","abstract":null,"journal":"Current Opinion in Genetics & Development","year":2015,"id":601929,"datarank":0.692268077526189,"base_score":4.61512051684126,"endowment":4.61512051684126,"self_citation_contribution":0.692268077526189,"citation_network_contribution":0.0,"self_endowment_contribution":0.692268077526189,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":100,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1543532,"name":"Alison M Dunning","orcid":null,"position":1,"is_corresponding":false},{"id":249313,"name":"Laura Fachal","orcid":"0000-0002-7256-9752","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"From candidate gene studies to GWAS and post-GWAS analyses in breast cancer","abstract":"There are now more than 90 established breast cancer risk loci, with 57 new ones, revealed through genome-wide-association studies (GWAS) during the last two years. Established high, moderate and low penetrance genetic variants currently explain ∼49% of familial breast cancer risk. GWAS-discovered variants account for 14%, and it is estimated that another 1000 yet-to-be-discovered loci could contribute an additional ∼14% of familial risk. Polygenic risk scores can already be used to stratify breast cancer risk in the female population and could improve the targeting of mammographic screening programmes, which are at present largely based on age-specific risks. Fine-scale mapping and functional analyses are revealing candidate causal variants and the molecular mechanisms by which GWAS-hits may act. Better-powered GWAS and genome-wide sequencing projects are likely to continue identifying new breast cancer causal variants.","is_dataset_classified":null,"base_score":4.61512051684126,"endowment":4.61512051684126,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"25727315","pmcid":null,"openalex_id":"https://openalex.org/W2057268591","authors":[],"funders":[{"funder_name":"European Social Fund","grant_id":"POS-A/2013/034","title":null},{"funder_name":"Cancer Research UK","grant_id":"c8197/A16565","title":null},{"funder_name":"Cancer Research UK","grant_id":"16565","title":null},{"funder_name":"Xunta de Galicia","grant_id":"","title":null}],"total_grants":4,"fwci":10.3568,"citation_percentile":0.98594284,"influential_citations":0,"citation_trend":[{"year":2015,"count":4},{"year":2016,"count":14},{"year":2017,"count":13},{"year":2018,"count":15},{"year":2019,"count":10},{"year":2020,"count":8},{"year":2021,"count":10},{"year":2022,"count":6},{"year":2023,"count":7},{"year":2024,"count":8},{"year":2025,"count":2},{"year":2026,"count":2}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0959437X15000052?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0959437X15000052?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.gde.2015.01.004","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/25727315","host_type":"repository"}],"fields_of_study":["BRCA gene mutations in cancer","Genetic Associations and Epidemiology","Cancer Genomics and Diagnostics","Breast Neoplasms","Female","Genetic Predisposition to Disease","Genome-Wide Association Study","Humans","Mammography","Polymorphism, Single Nucleotide"],"mesh_terms":["Breast Neoplasms","Female","Humans","Mammography","Genetic Predisposition to Disease","Polymorphism, Single Nucleotide","Genome-Wide Association Study"],"keywords":["Genome-wide association study","Breast cancer","Biology","Genetic association","Penetrance","Genetics","Population","Multifactorial Inheritance","Cancer","Computational biology","Bioinformatics","Single-nucleotide polymorphism","Gene","Medicine","Phenotype","Genotype","Environmental health"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-29T17:49:54.280663Z","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":[]}