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Although individual gene alterations have been extensively examined, direct head-to-head analysis of somatic versus germline variants within the same patient cohort remains limited. This study uses whole exome sequencing (WES) on tumor and matched blood samples from 13 patients to compare mutation profiles and highlight distinct and shared pathogenic variants, supporting integrated germline-somatic interpretation in endometrial cancer research.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/somatic-and-germline-mutations-in-endometrial-cancer/331298/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/somatic-and-germline-mutations-in-endometrial-cancer/331298.png","ImageObject",300,407,{"name":92,"@type":93},"Levi","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-12","2026-09-21",true,{"@type":102,"interactionType":103,"userInteractionCount":44},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is the main research focus of this study?","Question",{"text":112,"@type":113},"The study compares somatic and germline mutations in endometrial cancer using matched tumor and blood samples from the same cohort.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were genetic mutations analyzed?",{"text":117,"@type":113},"Whole exome sequencing (WES) was performed on tumor tissues and matched blood samples, followed by bioinformatics analysis and annotation using the Geneyx platform.",{"name":119,"@type":110,"acceptedAnswer":120},"Which genes and mutation types were highlighted?",{"text":121,"@type":113},"Key pathogenic variants were identified in genes including PTEN, PIK3CA, TP53, MLH1, and MSH2, showing both somatic and germline mutation contributions with distinct and overlapping profiles.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},331298,1790153247,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":52,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},7971461740909,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","JOURNAL of MEDICINE and LIFE  \nJML | ORIGINAL ARTICLE  \nSomatic and germline mutations in endometrial cancer  \nRobert Botea1,2\\#, Madalina Piron-Dumitrascu1,2\\#, Tiberiu Augustin Georgescu3,4, Camil Laurentiu Bohiltea5,6, Silviu Cristian Voinea7,8, Valentin Nicolae Varlas1,9, Simona Raluca Iacoban1*, Nicolae Suciu1,2  \n1. Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \n2. Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute of Mother and Child Health, Bucharest, Romania  \n3. Department of Pathology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \n4. Department of Pathology, Alessandrescu-Rusescu National Institute of Mother and Child Health, Bucharest, Romania  \n5. Department of Medical Genetics, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \n6. Materno-Fetal Assistance Excellence Center, Alessandrescu-Rusescu National Institute of Mother and Child Health, Bucharest, Romania  \n7. Department of General Surgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \n8. Department of Oncological Surgery, Alexandru Trestioreanu Oncology Institute, Bucharest, Romania  \n9. Department of Obstetrics and Gynecology-Filantropia Obstetrics and Gynecology Clinical Hospital, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \n\\# Authors have contributed equally  \n* Corresponding author  \nSimona Raluca Iacoban  \nDepartment of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania  \nE-mail: [simona@iacoban.ro](simona@iacoban.ro)  \nDOI  \n10.25122/jml-2024-0313  \nDates  \nReceived: 22 May 2024  \nAccepted: 2 June 2024  \nABSTRACT  \nEndometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as PTEN, PIK3CA, TP53, MLH1, and MSH2 . Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.  \nKEYWORDS: Endometrial cancer, whole exome sequencing, germline mutations, somatic mutations, cancer genetics, personalized medicine  \nINTRODUCTION  \nEndometrial cancer is the most common gynecological malignancy in developed countries, with an estimated 65,620 new cases and 12,590 deaths in the United States in 2020 alone [1] . The incidence of endometrial cancer has been rising, partly due to the increased prevalence of risk factors such as obesity, hypertension, and diabetes [2] . While the majority of cases are diagnosed at an early stage and have a favorable prognosis, a significant  \nproportion presents with advanced disease, which is associated with poor outcomes [3,4] .  \nGenetic factors play a crucial role in the development of endometrial cancer [5,6]. These factors can be broadly categorized into germline and somatic mutations. Germline mutations are inherited and present in every cell of the body, whereas somatic mutations are acquired and confined to the tumor cells [7,8]. Distinguishing between these two types of mutations is essential for understanding  \n564  \nJOURNAL of MEDICINE and LIFE. VOL: 17 ISSUE: 6 JUNE 2024  \n© 2024 by the authors. T","cbCaioLTnMV0hK6S","https://ap.wps.com/l/cbCaioLTnMV0hK6S","pdf",327150,"English","# Abstract\n# Introduction\n## Genetic basis of endometrial cancer\n## Somatic mutations and key pathways\n## Germline mutations and hereditary risk\n## Whole exome sequencing (WES)\n## Rationale for integrated somatic-germline analysis","[{\"question\":\"What is the main research focus of this study?\",\"answer\":\"The study compares somatic and germline mutations in endometrial cancer using matched tumor and blood samples from the same cohort.\"},{\"question\":\"How were genetic mutations analyzed?\",\"answer\":\"Whole exome sequencing (WES) was performed on tumor tissues and matched blood samples, followed by bioinformatics analysis and annotation using the Geneyx platform.\"},{\"question\":\"Which genes and mutation types were highlighted?\",\"answer\":\"Key pathogenic variants were identified in genes including PTEN, PIK3CA, TP53, MLH1, and MSH2, showing both somatic and germline mutation contributions with distinct and overlapping profiles.\"}]","Somatic and germline mutations in endometrial cancer | PDF",1789992575,25]