{"doi":"10.1002/ijc.20983","title":"Mutation analysis of the <i>MYH</i> gene in an Australian series of colorectal polyposis patients with or without germline <i>APC</i> mutations","abstract":"<jats:title>Abstract</jats:title><jats:p>The <jats:italic>MYH</jats:italic> gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the <jats:italic>MYH</jats:italic> gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the <jats:italic>APC</jats:italic> gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative <jats:italic>APC</jats:italic> germline mutations. The results reveal that <jats:italic>MYH</jats:italic> accounts for 16 percent of polyposis patients without germline mutations in the <jats:italic>APC</jats:italic> gene and that it does not appear to be a modifier gene in FAP patients diagnosed with <jats:italic>APC</jats:italic> germline mutations. © 2005 Wiley‐Liss, Inc.</jats:p>","journal":"International Journal of Cancer","year":2005,"id":614042,"datarank":0.5742962094733643,"base_score":3.828641396489095,"endowment":3.828641396489095,"self_citation_contribution":0.5742962094733643,"citation_network_contribution":0.0,"self_endowment_contribution":0.5742962094733643,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":45,"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":1582149,"name":"Cliff J. 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We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the <jats:italic>APC</jats:italic> gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative <jats:italic>APC</jats:italic> germline mutations. The results reveal that <jats:italic>MYH</jats:italic> accounts for 16 percent of polyposis patients without germline mutations in the <jats:italic>APC</jats:italic> gene and that it does not appear to be a modifier gene in FAP patients diagnosed with <jats:italic>APC</jats:italic> germline mutations. © 2005 Wiley‐Liss, Inc.</jats:p>","is_dataset_classified":null,"base_score":3.828641396489095,"endowment":3.828641396489095,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15761860","pmcid":null,"openalex_id":"https://openalex.org/W2047565450","authors":[],"funders":[],"total_grants":0,"fwci":3.4662,"citation_percentile":0.92242778,"influential_citations":0,"citation_trend":[{"year":2012,"count":3},{"year":2013,"count":2},{"year":2015,"count":1},{"year":2016,"count":1},{"year":2018,"count":1},{"year":2019,"count":3},{"year":2024,"count":2}],"oa_status":"bronze","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.20983","host_type":"journal"},{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.20983","host_type":"publisher"},{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fijc.20983","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/ijc.20983","host_type":"publisher"},{"url":"https://doi.org/10.1002/ijc.20983","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15761860","host_type":"repository"}],"fields_of_study":["Genetic factors in colorectal cancer","Colorectal Cancer Treatments and Studies","Colorectal Cancer Screening and Detection"],"mesh_terms":["Adult","Aged","Australia","Child, Preschool","DNA Mutational Analysis","Female","Humans","Male","Middle Aged","Adenomatous Polyposis Coli","Genes, APC","Germ-Line Mutation"],"keywords":["MUTYH","Germline","Familial adenomatous polyposis","Germline mutation","Adenomatous polyposis coli","Gene","Colorectal cancer","Medicine","Mutation","Gene mutation","Cancer research","Genetics","Biology","Cancer"],"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":"2026-08-02T10:25:32.165015Z","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":[]}