Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Abstract Background Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda crit...
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| Format: | Article |
| Language: | English |
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BMC
2023-10-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-023-00266-0 |
| _version_ | 1797556122003963904 |
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| author | Miguel Angel Trujillo-Rojas María de la Luz Ayala-Madrigal Melva Gutiérrez-Angulo Anahí González-Mercado José Miguel Moreno-Ortiz |
| author_facet | Miguel Angel Trujillo-Rojas María de la Luz Ayala-Madrigal Melva Gutiérrez-Angulo Anahí González-Mercado José Miguel Moreno-Ortiz |
| author_sort | Miguel Angel Trujillo-Rojas |
| collection | DOAJ |
| description | Abstract Background Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history. Main body Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the affected gene and probably of the variant. Patients with variants in low-penetrance genes have a lower risk of developing a cancer associated with LS, leading to families with unaffected generations and showing fewer clear patterns. This study focuses on describing genetic aspects of LS cases that underlie the lack of sensitivity of the clinical criteria used for its diagnosis. Conclusion Universal screening could be an option to address the problem of underdiagnosis. |
| first_indexed | 2024-03-10T16:57:17Z |
| format | Article |
| id | doaj.art-d9aa6d008d684051b1225226db1d4a4a |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-03-10T16:57:17Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-d9aa6d008d684051b1225226db1d4a4a2023-11-20T11:06:43ZengBMCHereditary Cancer in Clinical Practice1897-42872023-10-012111810.1186/s13053-023-00266-0Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteriaMiguel Angel Trujillo-Rojas0María de la Luz Ayala-Madrigal1Melva Gutiérrez-Angulo2Anahí González-Mercado3José Miguel Moreno-Ortiz4Doctorado en Genética Humana e Instituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de GuadalajaraInstituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la SaludDepartamento de Ciencias de la Salud, Centro Universitario de los Altos, Universidad de GuadalajaraInstituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la SaludInstituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la SaludAbstract Background Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history. Main body Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing, to confirm the diagnosis. However, these criteria have poor sensitivity, as more than one-quarter of patients with LS do not meet the criteria. It is very likely that the lack of sensitivity of the criteria is due to the incomplete penetrance of this syndrome. The penetrance and risk of developing a particular type of cancer are highly dependent on the affected gene and probably of the variant. Patients with variants in low-penetrance genes have a lower risk of developing a cancer associated with LS, leading to families with unaffected generations and showing fewer clear patterns. This study focuses on describing genetic aspects of LS cases that underlie the lack of sensitivity of the clinical criteria used for its diagnosis. Conclusion Universal screening could be an option to address the problem of underdiagnosis.https://doi.org/10.1186/s13053-023-00266-0Lynch SyndromeClinical criteriaGenetics aspectsAmsterdamBethesda |
| spellingShingle | Miguel Angel Trujillo-Rojas María de la Luz Ayala-Madrigal Melva Gutiérrez-Angulo Anahí González-Mercado José Miguel Moreno-Ortiz Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria Hereditary Cancer in Clinical Practice Lynch Syndrome Clinical criteria Genetics aspects Amsterdam Bethesda |
| title | Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria |
| title_full | Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria |
| title_fullStr | Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria |
| title_full_unstemmed | Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria |
| title_short | Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria |
| title_sort | diagnosis of patients with lynch syndrome lacking the amsterdam ii or bethesda criteria |
| topic | Lynch Syndrome Clinical criteria Genetics aspects Amsterdam Bethesda |
| url | https://doi.org/10.1186/s13053-023-00266-0 |
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