A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR)...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Clinics and Practice |
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| Online Access: | https://www.mdpi.com/2039-7283/13/2/47 |
| _version_ | 1797605867508465664 |
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| author | Ana Paula Giannoni Ina Sevic Fernanda Parenti Laura Alaniz |
| author_facet | Ana Paula Giannoni Ina Sevic Fernanda Parenti Laura Alaniz |
| author_sort | Ana Paula Giannoni |
| collection | DOAJ |
| description | Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help evaluate the cancer risk and, consequently, a proper course of clinical management for the person harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence of lipomas in this patient and his family could be related to this syndrome. Further investigation may provide a possible visual clue that can indicate a need for genetic screening. |
| first_indexed | 2024-03-11T05:07:10Z |
| format | Article |
| id | doaj.art-8f7f798725994869a3ec3e8f23dd6039 |
| institution | Directory Open Access Journal |
| issn | 2039-7283 |
| language | English |
| last_indexed | 2024-03-11T05:07:10Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Clinics and Practice |
| spelling | doaj.art-8f7f798725994869a3ec3e8f23dd60392023-11-17T18:48:43ZengMDPI AGClinics and Practice2039-72832023-04-0113251551910.3390/clinpract13020047A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with LipomasAna Paula Giannoni0Ina Sevic1Fernanda Parenti2Laura Alaniz3Centro Médico de Cirugía (CmC) Famyl, Clínica Centro-Junín, Junín B6000, ArgentinaLaboratorio de Microambiente Tumoral, Centro de Investigaciones Básicas y Aplicadas (CIBA, UNNOBA), CIT NOBA, Universidad Nacional del Noroeste de la Provincia de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (UNNOBA-CONICET), Junín B6000, ArgentinaCentro Médico de Cirugía (CmC) Famyl, Clínica Centro-Junín, Junín B6000, ArgentinaLaboratorio de Microambiente Tumoral, Centro de Investigaciones Básicas y Aplicadas (CIBA, UNNOBA), CIT NOBA, Universidad Nacional del Noroeste de la Provincia de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (UNNOBA-CONICET), Junín B6000, ArgentinaColorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help evaluate the cancer risk and, consequently, a proper course of clinical management for the person harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence of lipomas in this patient and his family could be related to this syndrome. Further investigation may provide a possible visual clue that can indicate a need for genetic screening.https://www.mdpi.com/2039-7283/13/2/47MSH6Lynch syndromelipomasgenetic screeningcancer risk |
| spellingShingle | Ana Paula Giannoni Ina Sevic Fernanda Parenti Laura Alaniz A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas Clinics and Practice MSH6 Lynch syndrome lipomas genetic screening cancer risk |
| title | A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas |
| title_full | A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas |
| title_fullStr | A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas |
| title_full_unstemmed | A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas |
| title_short | A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas |
| title_sort | novel msh6 gene variant in a lynch syndrome patient with lipomas |
| topic | MSH6 Lynch syndrome lipomas genetic screening cancer risk |
| url | https://www.mdpi.com/2039-7283/13/2/47 |
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