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Title: Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Authors: Trujillo Rojas, Miguel Angel
Ayala Madrigal, María de la Luz
Gutiérrez Angulo, Melva
González Mercado, Anahí
Moreno Ortiz, José Miguel
Keywords: Lynch Syndrome
clinical criteria
genetics aspects
Issue Date: Oct-2023
Publisher: BMC Part of Springer Nature
Citation: Trujillo-Rojas, M.A., Ayala-Madrigal, M.d.L., Gutiérrez-Angulo, M. et al. Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria. Hered Cancer Clin Pract 21, 21 (2023).
Series/Report no.: Hereditary Cancer in Clinical Practice;
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.
Description: Artículo
ISSN: 1897-4287
Appears in Collections:3201 Artículos

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