A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2–3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and sk...
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MDPI AG
2023-08-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/17/5502 |
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| author | Ugne Silinskaite Edita Gavelienė Rokas Stulpinas Ramunas Janavicius Tomas Poskus |
| author_facet | Ugne Silinskaite Edita Gavelienė Rokas Stulpinas Ramunas Janavicius Tomas Poskus |
| author_sort | Ugne Silinskaite |
| collection | DOAJ |
| description | Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2–3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the <i>MLH1</i>, <i>MSH2</i> (<i>EPCAM</i>), <i>MSH6</i>, and <i>PMS2</i> genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgical procedures for a total of thirteen different malignancies. She was found to have a deleterious pathogenic gene <i>MSH2</i> (NM_000251.2) variant (mutation) c.1774_1775insT in the 12th exon. This variant, c.1774_1775insT, represents a novel finding, as it has not been previously reported in existing databases or literature. No other case of 13 metachronous tumors in a patient with Lynch syndrome was found in the literature. |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T23:20:13Z |
| publishDate | 2023-08-01 |
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| series | Journal of Clinical Medicine |
| spelling | doaj.art-264bc4a918ab41118c0c3b38ddc5a2cd2023-11-19T08:21:32ZengMDPI AGJournal of Clinical Medicine2077-03832023-08-011217550210.3390/jcm12175502A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous MalignanciesUgne Silinskaite0Edita Gavelienė1Rokas Stulpinas2Ramunas Janavicius3Tomas Poskus4Faculty of Medicine, Vilnius University, LT-03101 Vilnius, LithuaniaInstitute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, LithuaniaDepartment of Pathology, Forensic Medicine and Pharmacology, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, LithuaniaDepartment of Oncogenetics, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Clinics, LT-08661 Vilnius, LithuaniaInstitute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, LithuaniaLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2–3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the <i>MLH1</i>, <i>MSH2</i> (<i>EPCAM</i>), <i>MSH6</i>, and <i>PMS2</i> genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgical procedures for a total of thirteen different malignancies. She was found to have a deleterious pathogenic gene <i>MSH2</i> (NM_000251.2) variant (mutation) c.1774_1775insT in the 12th exon. This variant, c.1774_1775insT, represents a novel finding, as it has not been previously reported in existing databases or literature. No other case of 13 metachronous tumors in a patient with Lynch syndrome was found in the literature.https://www.mdpi.com/2077-0383/12/17/5502lynch syndromehereditary nonpolyposis colorectal cancermetachronous cancermultiple malignanciestumorsurveillance |
| spellingShingle | Ugne Silinskaite Edita Gavelienė Rokas Stulpinas Ramunas Janavicius Tomas Poskus A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies Journal of Clinical Medicine lynch syndrome hereditary nonpolyposis colorectal cancer metachronous cancer multiple malignancies tumor surveillance |
| title | A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies |
| title_full | A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies |
| title_fullStr | A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies |
| title_full_unstemmed | A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies |
| title_short | A Novel Mutation of <i>MSH2</i> Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies |
| title_sort | novel mutation of i msh2 i gene in a patient with lynch syndrome presenting with thirteen metachronous malignancies |
| topic | lynch syndrome hereditary nonpolyposis colorectal cancer metachronous cancer multiple malignancies tumor surveillance |
| url | https://www.mdpi.com/2077-0383/12/17/5502 |
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