Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

By H. Hampel, W. Frankel, E. Martin, M. Arnold, K. Khanduja, P. Kuebler, H. Nakagawa, Kaisa Sotamaa, T. Prior, J. Westman and 5 more. New England Journal of Medicine, 2005

1,277 citations recorded by the source corpus.

Subfields: Oncology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/695368a3016df0dad7912d013c46d29e8101734d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Oncology

1. Stephen B. Gruber
2. Eduardo Vilar

In Pathology and Forensic Medicine

1. Stephen B. Gruber
2. Eduardo Vilar

Citations in the corpus

• Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications (2009, background): “It occurs world-wide (81) and may account for as much as 5–10% of all LS (82).”
• Colorectal carcinoma: Pathologic aspects. (2012, background): “Almost 90% of patients have mutations in either MLH1 or MSH2 gene (57,59).”
• Microsatellite instability in colorectal cancer—the stable evidence (2010, background): “Tumors harboring a deficient mismatch repair (MMR) system owing to germline, somatic or epigenetic inactivation account for approximately 15% of CRC diagnosed in the US”
• Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (2006, methodology): “1% of unselected endometrial cancer patients have Lynch syndrome (14, 16), nearly identical to our findings in both endometrial cancer (this study) and colorectal cancer (1).”
• Feasibility of screening for Lynch syndrome among patients with colorectal cancer. (2008, methodology): “Methods Sample processing, MSI testing, IHC staining methods, MLH1 promoter methylation testing, and mutation detection methods used in this study have been described in detail previously.(19,20)”
• Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts (2013, positive): “In view of these problems, systematic testing of all patients with CRC (or all individuals with CRC <70 years) has been recommended for loss of MMR function by means of MSI or immunohistochemistry independent of clinical criteria.(30) Since the 2007 guidelines, several studies have been published on”
• Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives (2009, neutral): “Evaluating clinical management involves answering the following two questions: (1) are management options for patients and relatives with an MMR mutation different from those without an MMR mutation; and (2) does knowledge of MMR mutation status change management decisions?”