{"doi":"10.3390/genes11090986","title":"Novel Germline c.105_107dupGCT MEN1 Mutation in a Family with Newly Diagnosed Multiple Endocrine Neoplasia Type 1","abstract":"<jats:p>In multiple endocrine neoplasia type 1 (MEN1), the causative MEN1 gene mutations lead to the reduced expression of menin, which is a tumor suppressor protein. In this study, we present a case of a 16-year-old woman with severe primary hyperparathyroidism and a non-functioning pituitary microadenoma. Genetic testing demonstrated a novel germline heterozygote variant c.105_107dupGCT of MEN1, leading to Leu duplication in position 37 of the menin polypeptide chain. As such a mutation was not reported before as a causative one, confirmation of its pathogenicity required showing the same mutation in a symptomatic first-degree relative. An identical mutation was found in the patient’s father, who was further diagnosed with hyperparathyroidism and a pituitary microadenoma. We observed the presence of the same MEN1-related tumors but an entirely different symptom severity. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.105_107dupGCT MEN1 mutation. This case report demonstrates the importance of genetic evaluation towards MEN1. Genetic testing for MEN1 mutations should be performed in all patients with MEN1-related tumors, and in the young patients even with only one such tumor, despite the supposedly negative family history.</jats:p>","journal":"Genes","year":2020,"id":43999,"datarank":0.3486352318652867,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.056748709506989695,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.056748709506989695,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":6,"citers_with_citation_signal":4,"citers_with_endowment":4,"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":207921,"name":"Marek Dedecjus","orcid":"0000-0003-3485-8219","position":1,"is_corresponding":false},{"id":207922,"name":"Katarzyna Zawadzka-Starczewska","orcid":null,"position":2,"is_corresponding":false},{"id":207923,"name":"Emilia Adamska","orcid":null,"position":3,"is_corresponding":false},{"id":207924,"name":"Monika Tomaszewska","orcid":null,"position":4,"is_corresponding":false},{"id":207925,"name":"Andrzej Lewiński","orcid":"0000-0002-8748-3337","position":5,"is_corresponding":false},{"id":207920,"name":"Magdalena Stasiak","orcid":"0000-0002-2910-7691","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"32847108","pmcid":"PMC7565931","openalex_id":"https://openalex.org/W3080605911","authors":[],"funders":[{"funder_name":"Polish Mother’s Memorial Hospital—Research Institute, Lodz, Poland.","grant_id":"-","title":null}],"total_grants":1,"fwci":0.4436,"citation_percentile":0.65781496,"influential_citations":1,"citation_trend":[{"year":2020,"count":1},{"year":2023,"count":2},{"year":2024,"count":2},{"year":2026,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2073-4425/11/9/986/pdf?version=1598342180","host_type":"journal"},{"url":"https://www.mdpi.com/2073-4425/11/9/986/pdf?version=1598342180","host_type":"GOLD"},{"url":"https://www.mdpi.com/2073-4425/11/9/986/pdf?version=1598342180","host_type":"publisher"},{"url":"https://www.mdpi.com/2073-4425/11/9/986/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/genes11090986","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/32847108","host_type":"repository"},{"url":"https://doaj.org/article/ee45e6ec127b4f46badb465f1a58de8e","host_type":"repository"},{"url":"https://dx.doi.org/10.3390/genes11090986","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7565931","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7565931","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7565931?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Neuroendocrine Tumor Research Advances","Neuroblastoma Research and Treatments","Lung Cancer Research Studies","Medicine","Adolescent","Female","Gene Duplication","Germ-Line Mutation","Humans","Male","Multiple Endocrine Neoplasia Type 1","Pedigree","Proto-Oncogene Proteins"],"mesh_terms":["Adolescent","Female","Humans","Male","Pedigree","Proto-Oncogene Proteins","Germ-Line Mutation","Multiple Endocrine Neoplasia Type 1","Gene Duplication"],"keywords":["MEN1","Germline","Multiple endocrine neoplasia","Germline mutation","Mutation","Genetics","Endocrine system","Cancer research","Biology","Medicine","Internal medicine","Gene","Hormone","Pituitary adenoma","Multiple Endocrine Neoplasia Type 1","Menin","Primary Hyperparathyroidism","Men1 Gene"],"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":"2026-06-15T05:04:52.793304Z","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":[]}