{"doi":"10.17615/bwbf-p077","title":"Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer","abstract":"We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks, through 70 y of age, of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC, diagnosed by 50 y of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men and (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.","journal":"UNC Libraries","year":2020,"id":139343,"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":0.9375,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":14344,"name":"Sean P. Cleary","orcid":"0000-0002-5274-9983","position":1,"is_corresponding":false},{"id":218621,"name":"Mark A. Jenkins","orcid":"0000-0002-8964-6160","position":2,"is_corresponding":false},{"id":342729,"name":"Robert W. Haile","orcid":"0000-0001-6902-1836","position":3,"is_corresponding":false},{"id":218609,"name":"Daniel D. Buchanan","orcid":"0000-0003-2225-6675","position":4,"is_corresponding":false},{"id":342728,"name":"Michelle Cotterchio","orcid":"0000-0003-2862-7895","position":5,"is_corresponding":false},{"id":218613,"name":"Steven Gallinger","orcid":"0000-0002-6998-9414","position":6,"is_corresponding":false},{"id":595469,"name":"Susan Parry","orcid":null,"position":7,"is_corresponding":false},{"id":394900,"name":"Mark Clendenning","orcid":"0000-0001-9852-2103","position":8,"is_corresponding":false},{"id":436808,"name":"Terrilea Burnett","orcid":null,"position":9,"is_corresponding":false},{"id":228672,"name":"John L. Hopper","orcid":"0000-0002-8567-173X","position":10,"is_corresponding":false},{"id":275329,"name":"John A. Baron","orcid":"0000-0003-3461-1056","position":11,"is_corresponding":false},{"id":383881,"name":"James G. Dowty","orcid":"0000-0003-2383-0886","position":12,"is_corresponding":false},{"id":55326,"name":"Graham G. Giles","orcid":"0000-0003-4946-9099","position":13,"is_corresponding":false},{"id":598460,"name":"Katherine Tucker","orcid":"0000-0002-6452-9427","position":14,"is_corresponding":false},{"id":45394,"name":"Christophe Rosty","orcid":"0000-0001-7671-2651","position":15,"is_corresponding":false},{"id":728,"name":"Loı̈c Le Marchand","orcid":"0000-0001-5013-980X","position":16,"is_corresponding":false},{"id":342731,"name":"Aung Ko Win","orcid":"0000-0002-2794-5261","position":17,"is_corresponding":false},{"id":291313,"name":"Robert J. MacInnis","orcid":"0000-0002-1627-5047","position":18,"is_corresponding":false},{"id":595470,"name":"Jack Goldblatt","orcid":null,"position":19,"is_corresponding":false},{"id":218626,"name":"Noralane M. Lindor","orcid":"0000-0001-6129-3490","position":20,"is_corresponding":false},{"id":592317,"name":"Joanne Young","orcid":"0000-0002-1514-1522","position":21,"is_corresponding":false},{"id":174244,"name":"Hyeja Kim","orcid":null,"position":22,"is_corresponding":false},{"id":342730,"name":"Finlay Macrae","orcid":"0000-0003-4035-9678","position":23,"is_corresponding":false},{"id":383883,"name":"Ingrid Winship","orcid":"0000-0001-8535-6003","position":24,"is_corresponding":false},{"id":218632,"name":"Polly A. Newcomb","orcid":"0000-0001-8786-0043","position":25,"is_corresponding":false},{"id":70106,"name":"Alex Boussioutas","orcid":"0000-0002-8109-6897","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:17:10.185988Z","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":[]}