Barrow E, Hill J, Evans DG. Cancer risk in Lynch Syndrome. Fam Cancer. 2013;12(2):229–40.

CAS  Article  PubMed  Google Scholar 

Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009;76:1–18.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA. 2012;308:1555–65.

CAS  Article  PubMed  Google Scholar 

Hampel H, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26(35):5783–8.

Article  PubMed  PubMed Central  Google Scholar 

Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003;21(6):1174–9.

CAS  Article  PubMed  Google Scholar 

Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004;20(4–5):269–76.

Article  PubMed  PubMed Central  Google Scholar 

Rumilla K, Schowalter KV, Lindor NM, et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn. 2011;13:93–9.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Kempers MJ, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011;12(1):49–55.

Article  PubMed  Google Scholar 

Win AK, Jenkins MA, Dowty JG, et al. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev. 2017;26(3):404–12. doi:https://doi.org/10.1158/1055-9965.EPI-16-0693.

CAS  Article  PubMed  Google Scholar 

Hampel H, de la Chapelle A. The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means? Cancer Prev Res January. 2011;1(4):(1) 1–5. DOI:https://doi.org/10.1158/1940-6207.CAPR-10-0345.

Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 1995;108(5):1405–11.

CAS  Article  PubMed  Google Scholar 

Burn J, et al. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: A double-blind, randomised, placebo-controlled trial. The Lancet. 2020;395(10240):1855–63. doi:https://doi.org/10.1016/s0140-6736(20)30366-4.

CAS  Article  Google Scholar 

National Comprehensive Cancer Network. (2020) Genetic/Familial High-Risk Assessment: Colorectal (version 1.2020); p. LS-1; retrieved from https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf.

Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424–5.

CAS  Article  PubMed  Google Scholar 

Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453–6.

CAS  Article  PubMed  Google Scholar 

Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89:1758–62.

CAS  Article  PubMed  Google Scholar 

Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–8.

CAS  Article  PubMed  Google Scholar 

Kastrinos F, et al. Development and validation of the PREMM5 model for comprehensive risk assessment of Lynch syndrome. J Clin Oncol. 2017 May 10. Advance online publication. DOI:https://doi.org/10.1200/JCO.2016.69.6120.

Chen S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296(12):1479–87.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Barnetson RA, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354(26):2751–63.

CAS  Article  PubMed  Google Scholar 

Hampel H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005;129(2):415–21.

Article  PubMed  Google Scholar 

Stoffel E, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009;137(5):1621–7.

Article  PubMed  Google Scholar 

Wong C, Gibbs P, Johns J, et al. Value of database linkage: are patients at risk of familial colorectal cancer being referred for genetic counselling and testing? Intern Med J. 2008;38:328–33.

CAS  Article  PubMed  Google Scholar 

Cross DS, et al. Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. Genet Med. 2013;15(12):933–40.

Article  PubMed  Google Scholar 

Hampel H, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851–60.

CAS  Article  PubMed  Google Scholar 

Julie C, et al. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol. 2008;103(11):2825–35.

Article  PubMed  Google Scholar 

Perez-Carbonell L, et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut. 2012;61(6):865–72.

CAS  Article  PubMed  Google Scholar 

Van Lier MG, et al. Underutilization of microsatellite instability analysis in colorectal cancer patients at high risk for Lynch syndrome. Scand J Gastroenterol. 2009;44(5):600–4.

Article  PubMed  Google Scholar 

Group EW. 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. Genet Med. 2009;11(1):35–41.

Article  Google Scholar 

Palomaki GE, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11(1):42–65.

Article  PubMed  PubMed Central  Google Scholar 

Provenzale D, et al., Genetic/Familial High-Risk Assessment: Colorectal. 2014.

Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223–62.

Article  PubMed  PubMed Central  Google Scholar 

Giardiello FM, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol. 2014;109(8):1159–79.

Article  PubMed  Google Scholar 

Bulletins-Gynecology CoP, Oncology SoG. ACOG Practice Bulletin No. 147: Lynch syndrome. Obstet Gynecol. 2014;124(5):1042–54.

Article  Google Scholar 

Schneider JL, Davis J, Kauffman TL, et al. Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med. 2016;18(2):152–61. doi:https://doi.org/10.1038/gim.2015.43.

Article  PubMed  Google Scholar 

Muller C, et al. Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening. Clin Gastroenterol Hepatol. 2018;16(12):1911–8. doi:https://doi.org/10.1016/j.cgh.2018.08.038.

Article  PubMed  PubMed Central  Google Scholar 

Dicks E, Pullman D, Kao K, Macmillan A, Logan GS, Simmonds C, Etchegary H. Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators. Cancer Med. 2019;8(7):3614–22. doi:https://doi.org/10.1002/cam4.2182.

Article  PubMed  PubMed Central  Google Scholar 

Cohen SA, et al. Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice. Cancer. 2016;122:393–401. doi:https://doi.org/10.1002/cncr.29758.

Article  PubMed  Google Scholar 

Salyer CV, et al. Lynch syndrome in women with endometrial cancer: Comparison of universal and age-based strategies in a California healthcare system. Gynecol Oncol. 2019;154(S1):206–7. doi:https://doi.org/10.1016/j.ygyno.2019.04.479.

Article  Google Scholar 

Han J, Spigelman AD. Adherence to guidelines for the referral of patients with colorectal cancer and abnormal tumour tissue testing for assessment of Lynch syndrome. ANZ J Surg. 2019. doi:https://doi.org/10.1111/ans.15054.

Article  PubMed  Google Scholar 

O’Kane GM, et al. Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers. Cancer Med. 2017. doi:https://doi.org/10.1002/cam4.1025.

Article  PubMed  PubMed Central  Google Scholar 

Chapel. (2018). Immunohistochemistry for mismatch repair protein deficiency in endometrioid endometrial carcinoma yields equivalent results when performed on endometrial biopsy/curettage or hysterectomy specimens, Gynecologic Oncology.

Shia J. (2011). Immunohistochemical Staining for DNA Mismatch Repair Proteins in Intestinal Tract Carcinoma: How Reliable are Biopsy Samples?, Am J Surg Pathol.

Kumarasinghe AP, de Boer B, Bateman AC, Kumarasinghe MP. DNA mismatch repair enzyme immunohistochemistry in colorectal cancer: a comparison of biopsy and resection material. Pathology. 2010;42(5):414–20. doi:https://doi.org/10.3109/00313025.2010.493862.

Article  PubMed  Google Scholar 

O’Brien O, Ryan É, Creavin B, Kelly ME, Mohan HM, Geraghty R, Winter DC, Sheahan K. Correlation of immunohistochemical mismatch repair protein status between colorectal carcinoma endoscopic biopsy and resection specimens. J Clin Pathol. 2018 Jul;71(7):631–6. doi:https://doi.org/10.1136/jclinpath-2017-204946.

Warrier SK, Trainer AH, Lynch AC, et al. Preoperative diagnosis of Lynch syndrome with DNA mismatch repair immunohistochemistry on a diagnostic biopsy. Dis Colon Rectum. 2011;54(12):1480–7. doi:https://doi.org/10.1097/DCR.0b013e318231db1f.

CAS  Article  PubMed  Google Scholar 

Roth RM, Hampel H, Arnold CA, Yearsley MM, Marsh WL, Frankel WL. A modified Lynch syndrome screening algorithm in colon cancer: BRAF immunohistochemistry is efficacious and cost beneficial. Am J Clin Pathol. 2015 Mar;143(3):336 – 43. doi: https://doi.org/10.1309/AJCP4D7RXOBHLKGJ. PMID: 25696791.

Toon CW, Walsh MD, Chou A, et al. BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol. 2013;37(10):1592–602. doi:https