Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
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 heredita...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-04-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/14/5/1025 |
| _version_ | 1797599991544414208 |
|---|---|
| author | Mattia Garutti Lorenzo Foffano Roberta Mazzeo Anna Michelotti Lucia Da Ros Alessandra Viel Gianmaria Miolo Alberto Zambelli Fabio Puglisi |
| author_facet | Mattia Garutti Lorenzo Foffano Roberta Mazzeo Anna Michelotti Lucia Da Ros Alessandra Viel Gianmaria Miolo Alberto Zambelli Fabio Puglisi |
| author_sort | Mattia Garutti |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T03:43:13Z |
| format | Article |
| id | doaj.art-f67211ba22ec4693bf758c006965410c |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T03:43:13Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-f67211ba22ec4693bf758c006965410c2023-11-18T01:29:26ZengMDPI AGGenes2073-44252023-04-01145102510.3390/genes14051025Hereditary Cancer Syndromes: A Comprehensive Review with a Visual ToolMattia Garutti0Lorenzo Foffano1Roberta Mazzeo2Anna Michelotti3Lucia Da Ros4Alessandra Viel5Gianmaria Miolo6Alberto Zambelli7Fabio Puglisi8CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyUnit of Oncogenetics and Genomics CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyMedical Oncology and Hematology Unit, IRCCS—Humanitas Research Hospital, Rozzano, 20089 Milan, ItalyCRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, ItalyHereditary 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.https://www.mdpi.com/2073-4425/14/5/1025hereditary cancer syndromescancer predisposition syndromescancer geneticsBRCAlynch syndromeLi–Fraumeni |
| spellingShingle | Mattia Garutti Lorenzo Foffano Roberta Mazzeo Anna Michelotti Lucia Da Ros Alessandra Viel Gianmaria Miolo Alberto Zambelli Fabio Puglisi Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool Genes hereditary cancer syndromes cancer predisposition syndromes cancer genetics BRCA lynch syndrome Li–Fraumeni |
| title | Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool |
| title_full | Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool |
| title_fullStr | Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool |
| title_full_unstemmed | Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool |
| title_short | Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool |
| title_sort | hereditary cancer syndromes a comprehensive review with a visual tool |
| topic | hereditary cancer syndromes cancer predisposition syndromes cancer genetics BRCA lynch syndrome Li–Fraumeni |
| url | https://www.mdpi.com/2073-4425/14/5/1025 |
| work_keys_str_mv | AT mattiagarutti hereditarycancersyndromesacomprehensivereviewwithavisualtool AT lorenzofoffano hereditarycancersyndromesacomprehensivereviewwithavisualtool AT robertamazzeo hereditarycancersyndromesacomprehensivereviewwithavisualtool AT annamichelotti hereditarycancersyndromesacomprehensivereviewwithavisualtool AT luciadaros hereditarycancersyndromesacomprehensivereviewwithavisualtool AT alessandraviel hereditarycancersyndromesacomprehensivereviewwithavisualtool AT gianmariamiolo hereditarycancersyndromesacomprehensivereviewwithavisualtool AT albertozambelli hereditarycancersyndromesacomprehensivereviewwithavisualtool AT fabiopuglisi hereditarycancersyndromesacomprehensivereviewwithavisualtool |