[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-381165-105":59,"doc-detail-381165-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","hereditary-cancer-syndromes-a-comprehensive-review-with-a-visual-tool","Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool","","Hereditary cancer syndromes account for nearly 10% of cancers yet remain frequently underdiagnosed. Identifying a pathogenic gene variant can transform care through pharmacologic options, tailored prevention, and cascade testing within families. Diagnosis may be difficult because validated testing criteria are limited and existing approaches can show suboptimal performance. Clinician training gaps can further hinder appropriate genetic testing selection. This review synthesizes and categorizes adult hereditary cancer syndromes and supports daily practice with a visual decision tool.",{"@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/hereditary-cancer-syndromes-a-comprehensive-review-with-a-visual-tool/381165/",{"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/hereditary-cancer-syndromes-a-comprehensive-review-with-a-visual-tool/381165.png","ImageObject",300,407,{"name":92,"@type":93},"Rowan","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-25","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"Why are hereditary cancer syndromes important in oncology care?","Question",{"text":112,"@type":113},"They account for nearly 10% of cancers and can be underdiagnosed, but identifying causative gene variants can meaningfully affect treatment choices, prevention strategies, and family testing.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What are the main implications of finding a pathogenic gene variant?",{"text":117,"@type":113},"It can guide pharmacologic treatment effectiveness, enable tailored preventive programs and surveillance or prophylactic surgeries, and support cascade testing across relatives carrying the same variant.",{"name":119,"@type":110,"acceptedAnswer":120},"What makes diagnosing a hereditary cancer syndrome challenging?",{"text":121,"@type":113},"Validated testing criteria may be lacking or show suboptimal performance, and many clinicians may not be sufficiently trained to identify which patients would benefit from genetic testing.","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},381165,1790318768,{"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":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145},1099514067415,"https://ap-avatar.wpscdn.com/avatar/100002539d78ffe74a7?x-image-process=image/resize,m_fixed,w_180,h_180&k=1779092875211072502","Review  \nHereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool  \nMattia Garutti 1, *, Lorenzo Foffano 1,2, Roberta Mazzeo 1,2, Anna Michelotti 1,2, Lucia Da Ros 1, Alessandra Viel 3, Gianmaria Miolo 1, Alberto Zambelli 4,5 and Fabio Puglisi 1,2  \nCitation: Garutti, M.; Foffano, L.; Mazzeo, R.; Michelotti, A.; Da Ros, L.; Viel, A.; Miolo, G.; Zambelli, A.; Puglisi, F. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes 2023, 14, 1025. [https://doi.org/](https://doi.org/)[ ](https://doi.org/)[10.3390/genes14051025](10.3390/genes14051025)  \nAcademic Editor: Valeria D'Argenio  \nReceived: 26 March 2023  \nRevised: 23 April 2023  \nAccepted: 26 April 2023  \nPublished: 30 April 2023  \nCopyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \n1 CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy  \n2 Department of Medicine, University of Udine, 33100 Udine, Italy  \n3 Unit of Oncogenetics and Genomics CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy  \n4 Medical Oncology and Hematology Unit, IRCCS—Humanitas Research Hospital, Rozzano, 20089 Milan, Italy  \n5 Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072 Milan, Italy  \n* [Correspondence: mattia.garutti@cro.it](Correspondence: mattia.garutti@cro.it)  \nAbstract: Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.  \nKeywords: hereditary cancer syndromes; cancer predisposition syndromes; cancer genetics; BRCA; lynch syndrome; Li–Fraumeni; melanoma; breast cancer; colon cancer  \n1. Introduction  \nHereditary cancer syndromes (HCSs) account for nearly 10% of cancers even though they are often underdiagnosed [1,2] . Arising from mutations that confer an elevated susceptibility to cancer development, HCSs typically exhibit an autosomal dominant inheritance pattern, with a 50% risk of transmission to offspring. Although each syndrome displays highly specific clinical manifestations, there are common indicators that can aid in their identification, such as the early onset of cancer, the occurrence of multiple tumors in the same individual, a positive family history, and an atypical sex distribution (for example, breast cancer in a man) .  \nGenetic variants, the molecular basis of HCSs, describe DNA sequence variations within an individual's or population's genome that can influence gene expression or function to varying degrees. The American College of Medical Genetics and Genomics (ACMG) has established a framework to classify genetic variants into five categories based on their pathogenicity: Pathogenic (P), Likely pathogenic (LP), Uncertain significance (VUS), Likely benign (LB), and Benign (B) [3] . This classification scheme allows clinicians to interpret the significance of genetic variants and tailor patient management accordingly. In particular, while variants classified as pathogenic or likely pathogenic are considered clinically actionable and warrant disease-specific surveillanc","cbCaiuNOn6Y0BiMt","https://ap.wps.com/l/cbCaiuNOn6Y0BiMt","pdf",425849,27,"English","# Introduction\n## Genetic variants and classification\n## Clinical implications of gene testing\n## Diagnostic challenges\n# Methods and visual tool\n## Literature review scope\n## Organ-focused discussion\n## Visual tool for patient triage","[{\"question\":\"Why are hereditary cancer syndromes important in oncology care?\",\"answer\":\"They account for nearly 10% of cancers and can be underdiagnosed, but identifying causative gene variants can meaningfully affect treatment choices, prevention strategies, and family testing.\"},{\"question\":\"What are the main implications of finding a pathogenic gene variant?\",\"answer\":\"It can guide pharmacologic treatment effectiveness, enable tailored preventive programs and surveillance or prophylactic surgeries, and support cascade testing across relatives carrying the same variant.\"},{\"question\":\"What makes diagnosing a hereditary cancer syndrome challenging?\",\"answer\":\"Validated testing criteria may be lacking or show suboptimal performance, and many clinicians may not be sufficiently trained to identify which patients would benefit from genetic testing.\"}]","Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool | PDF",1790243909,68]