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Universal screening increases the identification of MMR-deficient tumors without germline MMR mutations, which are classified as Lynch-like syndrome (LLS). Case presentation A Bulgarian woman with SEOC at age 51 was found to have endometroid tumors with loss of MLH1 and PMS proteins. Next generation sequencing detected a heterozygous likely pathogenic WRN variant (c.4109del, p. Asn1370ThrfsTer23). Conclusions This case supports LLS etiology and highlights the need for targeted genetic testing and genetic counseling, integrated with molecular and clinical follow-up.",{"@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":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/lynch-like-syndrome-with-germline-wrn-mutation-in-bulgarian-patient-case-report/386059/",{"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/lynch-like-syndrome-with-germline-wrn-mutation-in-bulgarian-patient-case-report/386059.png","ImageObject",300,407,{"name":92,"@type":93},"Sophia Brooks","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-27","2026-09-24",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 distinguishes Lynch-like syndrome from Lynch syndrome in this context?","Question",{"text":112,"@type":113},"Lynch-like syndrome refers to MMR-deficient tumors suspected for LS after universal screening, but without germline mutations in the MMR genes. In this case, the diagnosis involved germline WRN mutation consistent with LLS.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What genetic alteration was identified in the Bulgarian patient?",{"text":117,"@type":113},"Next generation sequencing detected a heterozygous germline WRN likely pathogenic variant: c.4109del, p. (Asn1370ThrfsTer23).",{"name":119,"@type":110,"acceptedAnswer":120},"Why is specific genetic testing and genetic counseling important for patients with SEOC?",{"text":121,"@type":113},"Differentiating LS/LLS from sporadic cases guides clinical surveillance and follow-up management, and also helps inform genetic counseling for relatives.","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},386059,1790407146,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"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":39,"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":46},962084925636,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","Kamburova et al. Hereditary Cancer in Clinical Practice (2023) 21:13  \n[https://doi.org/10.1186/s13053-023-00257-1](https://doi.org/10.1186/s13053-023-00257-1)  \nHereditary Cancer in Clinical Practice  \nCASE REPORT Open Access  \nLynch-like syndrome with germline WRN mutation in Bulgarian patient  \nwith synchronous endometrial and ovarian cancer  \nZornitsa Bogomilova Kamburova 1,2*, Polina Damyanova Dimitrova3, Diana Strateva Dimitrova4, Katya Stefanova Kovacheva 1, Savelina Lubenova Popovska3 and Slavena Enkova Nikolova 1  \nAbstract  \nBackground Synchronous endometrial and ovarian cancer (SEOC) accounts for 50–70% of all synchronous gynecology cancers in women. Approximately 14% of SEOC cases are caused by Lynch syndrome (LS) . The widespread introduction of “universal screening” at LS (all cases with CRC and all EC cases diagnosed before age 60 should be tested for MMR deficiency) has led to an increasing number of suspected LS cases-MMR-deficient tumors without germline mutation in the MMR genes. These cases are attributed to the so-called Lynch-like syndrome (LLS) . Case presentation We present a case of LLS with a detected germline, likely pathogenic variant in the WRN gene. The proband was a woman diagnosed with SEOC at the age of 51 years. Histology of both tumors (endometrium and ovary) was endometroid and showed loss of MLH1 and PMS protein expression. Genetic testing by next generation sequencing (NGS) detected a germline mutation (in the heterozygous state) in the WRN gene-c.4109del, p. (Asn1370ThrfsTer23) in the proband.  \nConclusions The presented case contributes to the etiology of LLS and confirms the need for specific genetic testing, together with genetic counseling, in hereditary cancer syndromes. The use of combined information from clinicians, pathologists, genetic counselors, and data from NGS testing for cancer predisposition, clinical surveillance, and follow-up management in women with gynecology cancers, especially SEOC, could be improved.  \nKeywords Lynch-like syndrome, MMR deficiency, Proband, Likely pathogenic variant, WRN gene, Genetic counseling  \n*Correspondence:  \nZornitsa Bogomilova Kamburova  \n[zornicakamburova@gmail.com](zornicakamburova@gmail.com)  \n1Department of Medical Genetics, Medical University – Pleven, Pleven, Bulgaria  \n2Center of Medical genetics, University Hospital“Dr. Georgi Stranski”, Pleven, Bulgaria  \n3Department of Pathoanatomy, Medical University – Pleven, University Hospital“Dr. Georgi Stranski” – Pleven, Pleven, Bulgaria  \n4Clinic of Oncogynecology, University Hospital“Dr. Georgi Stranski” – Pleven, Pleven, Bulgaria  \n© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/licenses/by/4.0/](http://creativecommons.org/licenses/by/4.0/. The)[. The](http://creativecommons.org/licenses/by/4.0/. The)[ ](http://creativecommons.org/licenses/by/4.0/. The)Creative Commons Public Domain Dedication waiver ([http://creativecommons.org/publicdomain/zero/1.0/](http://creativecommons.org/publicdomain/zero/1.0/)) applies to the data made available in this article, unless otherwise stated in a credit line to the data.  \nKamburova et al. Hereditary Cancer in Clinical Practice (2023) 21:13  \nBackground  \nTh","cbCailWBnxjrtPDQ","https://ap.wps.com/l/cbCailWBnxjrtPDQ","pdf",2319593,"English","# Abstract\n## Background\n## Case presentation\n## Conclusions\n# Background\n## Synchronous endometrial and ovarian cancer (SEOC)\n## Lynch syndrome (LS) and mismatch repair (MMR) genes\n## MMR deficiency and universal screening\n## Rationale for differentiating LS from sporadic cases","[{\"question\":\"What distinguishes Lynch-like syndrome from Lynch syndrome in this context?\",\"answer\":\"Lynch-like syndrome refers to MMR-deficient tumors suspected for LS after universal screening, but without germline mutations in the MMR genes. In this case, the diagnosis involved germline WRN mutation consistent with LLS.\"},{\"question\":\"What genetic alteration was identified in the Bulgarian patient?\",\"answer\":\"Next generation sequencing detected a heterozygous germline WRN likely pathogenic variant: c.4109del, p. (Asn1370ThrfsTer23).\"},{\"question\":\"Why is specific genetic testing and genetic counseling important for patients with SEOC?\",\"answer\":\"Differentiating LS/LLS from sporadic cases guides clinical surveillance and follow-up management, and also helps inform genetic counseling for relatives.\"}]","Lynch-like syndrome with germline WRN mutation in Bulgarian patient - Case report | PDF",1790271983]