Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

By A. Umar, C. Boland, J. Terdiman, S. Syngal, A. de la Chapelle, J. Rüschoff, R. Fishel, N. Lindor, L. Burgart, R. Hamelin and 13 more. Journal of the National Cancer Institute, 2004

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Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of HNPCC, the National Cancer Institute hosted an international workshop on HNPCC in 1996, which led to the development of the Bethesda Guidelines for the identification of individuals with HNPCC who should be tested for MSI. To consider revision and improvement of the Bethesda Guidelines, another HNPCC workshop was held at the National Cancer Institute in Bethesda, MD, in 2002. In this commentary, we summarize the Workshop presentations on HNPCC and MSI testing; present the issues relating to the performance, sensitivity, and specificity of the Bethesda Guidelines; outline the revised Bethesda Guidelines for identifying individuals at risk for HNPCC; and recommend criteria for MSI testing.

Subfields: Oncology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/53d4ea2b3793eeae48c54498f49c58494e005fe3

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Citations in the corpus

American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008 (2009, background): “Hereditary non-polyposis colorectal cancer Patients who meet the Bethesda criteria for hereditary non-polyposis colorectal cancer (”
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications (2009, background): “Bethesda Guidelines for testing of colorectal tumors for microsatellite instability (MSI) (145) 1.”
European Association of Urology Guidelines on Upper Urinary Tract Urothelial Carcinoma: 2020 Update. (2020, neutral): “The Amsterdam criteria are a set of diagnostic criteria used by doctors to help identify families that are likely to have Lynch syndrome [12].”
ACG Clinical Guidelines: Colorectal Cancer Screening 2021. (2021, methodology): “CRC syndrome and using appropriate screening tools (114) is critical because a family history of CRC or advanced adenomas can guide clinicians to appropriately modify the starting age for”
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (2006, background): “Seven of the 10 patients with Lynch syndrome did not meet either Amsterdam criteria or Bethesda guidelines (44, 45).”
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes (2021, background): “, 1997), microsatellite instability is used clinically as a measure of MMR activity in colorectal cancers (Bacher et al., 2004; Umar et al., 2004).”
ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. (2019, methodology): “MSI is present when two or more mononucleotide markers show repeats length alteration [31, 32].”
Colorectal Carcinoma: A General Overview and Future Perspectives in Colorectal Cancer (2017, background): “Lynch syndrome can be found in 2%–3% of all colorectal cancer cases, and is therefore the most common syndrome in the HNPCC group [10,11].”
Comprehensive Molecular Characterization of Human Colon and Rectal Cancer (2012, background): “Lander(4,6,7), Stacey Gabriel(8), Gad Getz(4), Washington University in St.”
Colorectal carcinoma: Pathologic aspects. (2012, methodology): “It is typically assessed by analyzing two mononucleotide repeats (BAT-25 and BAT-26) and three dinucleotide repeats (D2S123, D5S346, and D17S250), known as the Bethesda panel (61,115), by comparison Figure 18 Low power (A.”
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts (2013, neutral): “The revised Bethesda guidelines are thus probably the most commonly used criteria to select patients with CRC for further molecular analysis of their tumours (MSI/immunohistochemistry).(29) However, these criteria and guidelines have been criticised for being too complex and lacking in specificity a”
The Consensus Molecular Subtypes of Colorectal Cancer (2015, methodology): “is supported by grants from the Dutch Cancer Society (UVA2011-4969, UVA2014-7245), Worldwide Cancer Research (14-1164), the Maag Lever Darm Stichting (MLDS-CDG 14-03) and the European Research Council (ERG-StG 638193).”