A Focused Clinical Review of Lynch Syndrome

References

• Ryan NA, McMahon RF, Ramchander NC, Seif MW, Evans DG, Crosbie EJ. Lynch syndrome for the gynaecologist. Obstet Gynaecol. 2021;23(1):9–20. doi:10.1111/tog.12706
   PubMedGoogle Scholar
• Martín-López JV, Fishel R. The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome. Fam Cancer. 2013;12(2):159–168. doi:10.1007/s10689-013-9635-x
   PubMed Web of Science ®Google Scholar
• Imai K, Yamamoto H. Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics. Carcinogenesis. 2007;29(4):673–680. doi:10.1093/carcin/bgm228
   PubMed Web of Science ®Google Scholar
• Wong H-L, Christie M, Gately L, et al. Mismatch repair deficiency assessment by immunohistochemistry: for Lynch syndrome screening and beyond. Future Oncol. 2018;14(26):2725–2739. doi:10.2217/fon-2018-0319
   PubMed Web of Science ®Google Scholar
• Ryan NAJ, Glaire MA, Blake D, Cabrera-Dandy M, Evans DG, Crosbie EJ. The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis. Genet Med. 2019;21(10):2167–2180. doi:10.1038/s41436-019-0536-8
   PubMed Web of Science ®Google Scholar
• Toon CW, Walsh MJ, Chou A, et al. BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol. 2013;37(10):1592. doi:10.1097/PAS.0b013e31828f233d
   PubMed Web of Science ®Google Scholar
• Møller P, Seppälä T, Bernstein I, et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017;66(3):464–472. doi:10.1136/gutjnl-2015-309675
   PubMed Web of Science ®Google Scholar
• Crosbie EJ, Ryan NAJ, Arends MJ, et al. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genet Med. 2019;21(10):2390–2400. doi:10.1038/s41436-019-0489-y
   PubMed Web of Science ®Google Scholar
• Seppälä TT, Latchford A, Negoi I, et al. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg. 2021;108(5):484–498. doi:10.1002/bjs.11902
   PubMed Web of Science ®Google Scholar
• Ryan NA, Donnelly L, Stocking K, Evans DG, Crosbie EJ. Feasibility of gynaecologist led Lynch syndrome testing in women with endometrial cancer. J Clin Med. 2020;9(6):1842. doi:10.3390/jcm9061842
   PubMed Web of Science ®Google Scholar
• Metcalfe A, Coad J, Plumridge GM, Gill P, Farndon P. Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. Eur J Hum Genet. 2008;16(10):1193–1200. doi:10.1038/ejhg.2008.84
   PubMed Web of Science ®Google Scholar
• Snowsill T, Coelho H, Huxley N, et al. Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Health Technol Assess. 2017;21(51):1–238. doi:10.3310/hta21510
   Web of Science ®Google Scholar
• Srinivasan S, Hampel H, Leeman J, et al. Stakeholder perspectives on overcoming barriers to cascade testing in Lynch syndrome: a qualitative study. Cancer Prev Res. 2020;13(12):1037–1046. doi:10.1158/1940-6207.CAPR-20-0141
   PubMed Web of Science ®Google Scholar
• Salikhanov I, Heinimann K, Chappuis P, et al. Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives. J Med Genet. 2022;59:jmedgenet-2021–108062.
   Google Scholar
• Jasperson K. Colorectal cancer: cascade genetic testing in Lynch syndrome: room for improvement. Nat Rev Gastroenterol Hepatol. 2013;10(9):506–508. doi:10.1038/nrgastro.2013.122
   PubMed Web of Science ®Google Scholar
• Griffin NE, Buchanan TR, Smith SH, et al. Low rates of cascade genetic testing among families with hereditary gynecologic cancer: an opportunity to improve cancer prevention. Gynecol Oncol. 2020;156(1):140–146. doi:10.1016/j.ygyno.2019.11.005
   PubMed Web of Science ®Google Scholar
• Menko FH, Ter Stege JA, van der Kolk LE, et al. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam Cancer. 2019;18(1):127–135. doi:10.1007/s10689-018-0089-z
   PubMed Web of Science ®Google Scholar
• Henrikson NB, Blasi P, Figueroa Gray M, et al. Patient and family preferences on health system-led direct contact for cascade screening. J Pers Med. 2021;11(6):538. doi:10.3390/jpm11060538
   PubMed Web of Science ®Google Scholar
• Voorwinden JS, Jaspers JPC. Prognostic factors for distress after genetic testing for hereditary cancer. J Genet Couns. 2016;25(3):495–503. doi:10.1007/s10897-015-9894-9
   PubMed Web of Science ®Google Scholar
• DudokdeWit AC, Tibben A, Duivenvoorden HJ, et al. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/leiden genetics workgroup. J Med Genet. 1997;34(5):382–390. doi:10.1136/jmg.34.5.382
   PubMed Web of Science ®Google Scholar
• Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H. Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents. Eur J Hum Genet. 2019;27(2):291–299. doi:10.1038/s41431-018-0262-8
   PubMed Web of Science ®Google Scholar
• Julian-Reynier C, Chabal F, Frebourg T, et al. Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol. 2009;27(27):4475–4480. doi:10.1200/JCO.2008.21.2712
   PubMed Web of Science ®Google Scholar
• Patel AP, Wang M, Fahed AC, et al. Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and lynch syndrome with disease risk in adults according to family history. JAMA Netw Open. 2020;3(4):e203959–e. doi:10.1001/jamanetworkopen.2020.3959
   PubMed Web of Science ®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. 2011;4(1):1–5. doi:10.1158/1940-6207.CAPR-10-0345
   PubMed Web of Science ®Google Scholar
• Hampel H, de la Chapelle A. How do we approach the goal of identifying everybody with Lynch syndrome? Fam Cancer. 2013;12(2):313–317. doi:10.1007/s10689-013-9611-5
   PubMed Web of Science ®Google Scholar
• Downing M, Pollitt R. Newborn bloodspot screening in the UK–past, present and future. Ann Clin Biochem. 2008;45(1):11–17. doi:10.1258/acb.2007.007127
   PubMedGoogle Scholar
• Manchanda R, Patel S, Gordeev VS, et al. Cost-effectiveness of population-based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 mutation testing in unselected general population women. J Natl Cancer Inst. 2018;110(7):714–725. doi:10.1093/jnci/djx265
   PubMedGoogle Scholar
• Guzauskas GF, Jiang S, Garbett S, et al. Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States. Genet Med. 2022;24(5):1017–1026. doi:10.1016/j.gim.2022.01.017
   PubMed Web of Science ®Google Scholar
• Manchanda R, Legood R. Population based germline testing for primary cancer prevention. Oncotarget. 2018;9(69):33062–33063. doi:10.18632/oncotarget.25995
   PubMedGoogle Scholar
• De Simone LM, Arjunan A, Vogel Postula KJ, Maga T, Bucheit LA. Genetic counselors’ perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome. J Genet Couns. 2021;30(1):158–169. doi:10.1002/jgc4.1305
   PubMed Web of Science ®Google Scholar
• Offit K, Tkachuk KA, Stadler ZK, et al. Cascading after peridiagnostic cancer genetic testing: an alternative to population-based screening. J Clin Oncol. 2020;38(13):1398–1408. doi:10.1200/JCO.19.02010
   PubMed Web of Science ®Google Scholar
• Dragojlovic N, Borle K, Kopac N, et al. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med. 2020;22(9):1437–1449. doi:10.1038/s41436-020-0825-2
   PubMed Web of Science ®Google Scholar
• Ryan NAJ, Morris J, Green K, et al. Association of mismatch repair mutation with age at cancer onset in Lynch syndrome: implications for stratified surveillance strategies. JAMA Oncol. 2017;3(12):1702–1706. doi:10.1001/jamaoncol.2017.0619
   PubMed Web of Science ®Google Scholar
• Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66(15):7810–7817. doi:10.1158/0008-5472.CAN-06-1114
   PubMed Web of Science ®Google Scholar
• Snowsill T, Huxley N, Hoyle M, et al. A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technol Assess. 2014;18(58):1–406. doi:10.3310/hta18580
   PubMed Web of Science ®Google Scholar
• Snowsill TM, Ryan NAJ, Crosbie EJ. Cost-effectiveness of the Manchester approach to identifying Lynch syndrome in women with endometrial cancer. J Clin Med. 2020;9:6. doi:10.3390/jcm9061664
   Web of Science ®Google Scholar
• Snowsill TM, Ryan NAJ, Crosbie EJ, Frayling IM, Evans DG, Hyde CJ. Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting. PLoS One. 2019;14(8):e0221419. doi:10.1371/journal.pone.0221419
   PubMed Web of Science ®Google Scholar
• Atwal A, Snowsill T, Dandy MC, et al. The prevalence of mismatch repair deficiency in ovarian cancer: a systematic review and meta-analysis. Int J Cancer. 2022;151(9):1626–1639. doi:10.1002/ijc.34165
   PubMed Web of Science ®Google Scholar
• Crosbie EJ, Kitson SJ, McAlpine JN, Mukhopadhyay A, Powell ME, Singh N. Endometrial cancer. Lancet. 2022;399(10333):1412–1428. doi:10.1016/S0140-6736(22)00323-3
   PubMed Web of Science ®Google Scholar
• Lu KH, Dinh M, Kohlmann W, et al. Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005;105(3):569–574. doi:10.1097/01.AOG.0000154885.44002.ae
   PubMed Web of Science ®Google Scholar
• Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117(2):206–212. doi:10.1001/archinte.1966.03870080050009
   PubMedGoogle 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(23):1758–1762. doi:10.1093/jnci/89.23.1758
   PubMedGoogle Scholar
• Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453–1456. doi:10.1016/S0016-5085(99)70510-X
   PubMed Web of Science ®Google Scholar
• Sjursen W, Haukanes BI, Grindedal EM, et al. Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet. 2010;47(9):579–585. doi:10.1136/jmg.2010.077677
   PubMed Web of Science ®Google Scholar
• Kastrinos F, Uno H, Ukaegbu C, et al. Development and validation of the PREMM(5) model for comprehensive risk assessment of lynch syndrome. J Clin Oncol. 2017;35(19):2165–2172. doi:10.1200/JCO.2016.69.6120
   PubMed Web of Science ®Google Scholar
• Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354(26):2751–2763. doi:10.1056/NEJMoa053493
   PubMed Web of Science ®Google Scholar
• Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296(12):1479–1487. doi:10.1001/jama.296.12.1479
   PubMed Web of Science ®Google Scholar
• George A, Riddell D, Seal S, et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Sci Rep. 2016;6(1):29506. doi:10.1038/srep29506
   PubMedGoogle Scholar
• Percival N, George A, Gyertson J, et al. The integration of BRCA testing into oncology clinics. Br J Nurs. 2016;25(12):690–694. doi:10.12968/bjon.2016.25.12.690
   PubMedGoogle Scholar
• Scott N, O’Sullivan J, Asgeirsson K, Macmillan D, Wilson E. Changing practice: moving to a specialist nurse-led service for BRCA gene testing. Br J Nurs. 2020;29(10):S6–S13. doi:10.12968/bjon.2020.29.10.S6
   PubMedGoogle Scholar
• Bokkers K, Vlaming M, Engelhardt EG, et al. The feasibility of implementing mainstream germline genetic testing in routine cancer care-a systematic review. Cancers. 2022;14:4. doi:10.3390/cancers14041059
   Web of Science ®Google Scholar
• NHS England. Implementing Lynch syndrome testing and surveillance pathways; 2021. Available from: https://www.england.nhs.uk/wp-content/uploads/2021/07/B0622-implementing-lynch-syndrome-testing-and-surveillance-pathways.pdf. Accessed December 29, 2022.
   Google Scholar
• Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020;69(3):411–444. doi:10.1136/gutjnl-2019-319915
   PubMed Web of Science ®Google Scholar
• Thompson BA, Spurdle AB, Plazzer JP, et al. Application of a 5-tiered scheme for standardized classification of 2360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet. 2014;46(2):107–115. doi:10.1038/ng.2854
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar
• Graves KD, Sinicrope PS, Esplen MJ, et al. Communication of genetic test results to family and health-care providers following disclosure of research results. Genet Med. 2014;16(4):294–301. doi:10.1038/gim.2013.137
   PubMed Web of Science ®Google Scholar
• Vears DF, Minion JT, Roberts SJ, et al. Return of individual research results from genomic research: a systematic review of stakeholder perspectives. PLoS One. 2021;16(11):e0258646. doi:10.1371/journal.pone.0258646
   PubMed Web of Science ®Google Scholar
• Bradbury AR, Patrick-Miller L, Egleston BL, et al. Returning individual genetic research results to research participants: uptake and outcomes among patients with breast cancer. JCO Precis Oncol. 2018;2:1–24.
   Web of Science ®Google Scholar
• Keogh L, McClaren B, Maskiell J, et al. How do individuals decide whether to accept or decline an offer of genetic testing for colorectal cancer? Hered Cancer Clin Pract. 2011;9(Suppl 1):P17. doi:10.1186/1897-4287-9-S1-P17
   Google Scholar
• Campbell-Salome G, Buchanan AH, Hallquist MLG, Rahm AK, Rocha H, Sturm AC. Uncertainty management for individuals with Lynch syndrome: identifying and responding to healthcare barriers. Patient Educ Couns. 2021;104(2):403–412. doi:10.1016/j.pec.2020.07.017
   PubMed Web of Science ®Google Scholar
• Van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy. 2019;51(11):1082–1093. doi:10.1055/a-1016-4977
   PubMed Web of Science ®Google Scholar
• Ahadova A, Gallon R, Gebert J, et al. Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. Int J Cancer. 2018;143(1):139–150. doi:10.1002/ijc.31300
   PubMed Web of Science ®Google Scholar
• Haanstra JF, Vasen HF, Sanduleanu S, et al. Quality colonoscopy and risk of interval cancer in Lynch syndrome. Int J Colorectal Dis. 2013;28(12):1643–1649. doi:10.1007/s00384-013-1745-2
   PubMed Web of Science ®Google Scholar
• Sánchez A, Roos VH, Navarro M, et al. Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in Lynch syndrome. Clin Gastroenterol Hepatol. 2022;20(3):611–21.e9. doi:10.1016/j.cgh.2020.11.002
   PubMed Web of Science ®Google Scholar
• Newton K, Green K, Lalloo F, Evans DG, Hill J. Colonoscopy screening compliance and outcomes in patients with Lynch syndrome. Colorectal Dis. 2015;17(1):38–46. doi:10.1111/codi.12778
   PubMed Web of Science ®Google Scholar
• Monahan KJ, Alsina D, Bach S, et al. Urgent improvements needed to diagnose and manage Lynch syndrome. BMJ. 2017;356:j1388. doi:10.1136/bmj.j1388
   PubMedGoogle Scholar
• Edwards P, Monahan KJ. Diagnosis and management of Lynch syndrome. Frontline Gastroenterol. 2022;13(e1):e80. doi:10.1136/flgastro-2022-102123
   PubMed Web of Science ®Google Scholar
• McNeil JJ, Gibbs P, Orchard SG, et al. Effect of aspirin on cancer incidence and mortality in older adults. J Natl Cancer Inst. 2021;113(3):258–265. doi:10.1093/jnci/djaa114
   PubMedGoogle Scholar
• Schmeler KM, Lynch HT, Chen L-M, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354(3):261–269. doi:10.1056/NEJMoa052627
   PubMed Web of Science ®Google Scholar
• Dominguez-Valentin M, Crosbie EJ, Engel C, et al. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a prospective Lynch syndrome database report. Genet Med. 2021;23(4):705–712. doi:10.1038/s41436-020-01029-1
   PubMed Web of Science ®Google Scholar
• Garry R, Fountain J, Mason S, et al. The eVALuate study: two parallel randomised trials, one comparing laparoscopic with abdominal hysterectomy, the other comparing laparoscopic with vaginal hysterectomy. BMJ. 2004;328(7432):129. doi:10.1136/bmj.37984.623889.F6
   PubMed Web of Science ®Google Scholar
• Ryan N, Snowsill T, McKenzie E, Monahan K, Nebgen D. Should women with Lynch syndrome be offered gynaecological cancer surveillance? BMJ. 2021;374:n2020. doi:10.1136/bmj.n2020
   PubMedGoogle Scholar
• Ryan N, Nobes M, Sedgewick D, Teoh SN, Evans DG, Crosbie EJ. A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome. BJOG. 2021;128(4):728–736. doi:10.1111/1471-0528.16432
   PubMed Web of Science ®Google Scholar
• Funston G, O’Flynn H, Ryan NAJ, Hamilton W, Crosbie EJ. Recognizing gynecological cancer in primary care: risk factors, red flags, and referrals. Adv Ther. 2018;35(4):577–589. doi:10.1007/s12325-018-0683-3
   PubMed Web of Science ®Google Scholar
• Burn J, Sheth H, Elliott F, 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. Lancet. 2020;395(10240):1855–1863. doi:10.1016/S0140-6736(20)30366-4
   PubMed Web of Science ®Google Scholar
• Havrilesky LJ, Moorman PG, Lowery WJ, et al. Oral contraceptive pills as primary prevention for ovarian cancer: a systematic review and meta-analysis. Obstet Gynecol. 2013;122:1. doi:10.1097/AOG.0b013e318291c235
   Google Scholar
• MacKintosh ML, Crosbie EJ. Prevention strategies in endometrial carcinoma. Curr Oncol Rep. 2018;20(12):101. doi:10.1007/s11912-018-0747-1
   PubMed Web of Science ®Google Scholar
• Lu KH, Loose DS, Yates MS, et al. Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome. Cancer Prev Res. 2013;6(8):774–781. doi:10.1158/1940-6207.CAPR-13-0020
   PubMed Web of Science ®Google Scholar
• Bancroft EK, Page EC, Brook MN, et al. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Lancet Oncol. 2021;22(11):1618–1631. doi:10.1016/S1470-2045(21)00522-2
   PubMed Web of Science ®Google Scholar
• Narine N, Rana D, Shelton D, et al. Synchronous uterine and bladder cancers detected in urine and vaginal samples by cytology. Diagn Cytopathol. 2022;50(3):E86–E91. doi:10.1002/dc.24906
   PubMed Web of Science ®Google Scholar
• Myrhøj T, And Ersen MB, Bernstein I. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Fam Cancer. 2008;7(4):303–307. doi:10.1007/s10689-008-9193-9
   PubMed Web of Science ®Google Scholar
• Coletta AM, Peterson SK, Gatus LA, et al. Energy balance related lifestyle factors and risk of endometrial and colorectal cancer among individuals with lynch syndrome: a systematic review. Fam Cancer. 2019;18(4):399–420. doi:10.1007/s10689-019-00135-7
   PubMed Web of Science ®Google Scholar
• Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to lynch syndrome a systematic review. JAMA. 2006;296(12):1507–1517. doi:10.1001/jama.296.12.1507
   PubMed Web of Science ®Google Scholar
• Fogleman AJ, Zahnd WE, Lipka AE, et al. Knowledge, attitudes, and perceived barriers towards genetic testing across three rural Illinois communities. J Community Genet. 2019;10(3):417–423. doi:10.1007/s12687-019-00407-w
   PubMed Web of Science ®Google Scholar
• Ryan N, Wall J, Crosbie EJ, et al. Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results. Histopathology. 2019;75(6):813–824. doi:10.1111/his.13925
   PubMed Web of Science ®Google Scholar
• Eriksson J, Amonkar M, Al-Jassar G, et al. Experience of mismatch repair/microsatellite instability (MMR/MSI) testing among patients with advanced/metastatic colorectal cancer in the US. Curr Med Res Opin. 2020;36(8):1355–1361. doi:10.1080/03007995.2020.1776235
   PubMed Web of Science ®Google Scholar
• Kang SY, Kim DG, Ahn S, Ha SY, Jang K-T, Kim K-M. Comparative analysis of microsatellite instability by next-generation sequencing, MSI PCR and MMR immunohistochemistry in 1942 solid cancers. Pathol Res Pract. 2022;233:153874. doi:10.1016/j.prp.2022.153874
   PubMed Web of Science ®Google Scholar
• Stoffel EM, Mangu PB, Gruber SB, et al. Hereditary colorectal cancer syndromes: American society of clinical oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European society for medical oncology clinical practice guidelines. J Clin Oncol. 2015;33(2):209–217. doi:10.1200/JCO.2014.58.1322
   PubMed Web of Science ®Google Scholar
• Gupta S, Provenzale D, Llor X, et al. NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 2.2019: featured updates to the NCCN guidelines. J Natl Compr Canc Netw. 2019;17(9):1032–1041. doi:10.6004/jnccn.2019.0044
   PubMed Web of Science ®Google Scholar
• Stjepanovic N, Moreira L, Carneiro F, et al. Hereditary gastrointestinal cancers: ESMO clinical practice guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019;30(10):1558–1571. doi:10.1093/annonc/mdz233
   PubMed Web of Science ®Google Scholar
• Jenkins MA, Ait Ouakrim D, Boussioutas A, et al. Revised Australian national guidelines for colorectal cancer screening: family history. Med J Aust. 2018;209(10):455–460. doi:10.5694/mja18.00142
   PubMed Web of Science ®Google Scholar
• Boland CR, Shike M. Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology. 2010;138(7):2197.e1–e21977. doi:10.1053/j.gastro.2010.04.024
   PubMed Web of Science ®Google Scholar
• Ghorbanoghli Z, Jabari C, Sweidan W, et al. A new hereditary colorectal cancer network in the Middle East and eastern Mediterranean countries to improve care for high-risk families. Fam Cancer. 2018;17(2):209–212. doi:10.1007/s10689-017-0018-6
   PubMed Web of Science ®Google Scholar
• Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260(5109):816–819. doi:10.1126/science.8484122
   PubMed Web of Science ®Google Scholar
• Ramchander NC, Ryan NAJ, Walker TDJ, et al. Distinct immunological landscapes characterize inherited and sporadic mismatch repair deficient endometrial cancer. Front Immunol. 2020;10:3023. doi:10.3389/fimmu.2019.03023
   PubMed Web of Science ®Google Scholar
• von Knebel Doeberitz M, Kloor M. Towards a vaccine to prevent cancer in Lynch syndrome patients. Fam Cancer. 2013;12(2):307–312. doi:10.1007/s10689-013-9662-7
   PubMed Web of Science ®Google Scholar
• Gebert J, Gelincik O, Oezcan-Wahlbrink M, et al. Recurrent frameshift neoantigen vaccine elicits protective immunity with reduced tumor burden and improved overall survival in a lynch syndrome mouse model. Gastroenterology. 2021;161(4):1288–302.e13. doi:10.1053/j.gastro.2021.06.073
   PubMed Web of Science ®Google Scholar
• Sahin U, Türeci Ö. Personalized vaccines for cancer immunotherapy. Science. 2018;359(6382):1355–1360. doi:10.1126/science.aar7112
   PubMed Web of Science ®Google Scholar
• Hernandez-Sanchez A, Grossman M, Yeung K, Sei SS, Lipkin S, Kloor M. Vaccines for immunoprevention of DNA mismatch repair deficient cancers. J Immunother Cancer. 2022;10(6):e004416. doi:10.1136/jitc-2021-004416
   PubMed Web of Science ®Google Scholar
• Zwink N, Holleczek B, Stegmaier C, Hoffmeister M, Brenner H. Complication rates in colonoscopy screening for cancer. Dtsch Arztebl Int. 2017;114(18):321–327. doi:10.3238/arztebl.2017.0321
   PubMed Web of Science ®Google Scholar
• Morris EJ, Rutter MD, Finan PJ, Thomas JD, Valori R. Post-colonoscopy colorectal cancer (PCCRC) rates vary considerably depending on the method used to calculate them: a retrospective observational population-based study of PCCRC in the English national health service. Gut. 2015;64(8):1248–1256. doi:10.1136/gutjnl-2014-308362
   PubMed Web of Science ®Google Scholar
• Schreuders EH, Grobbee EJ, Spaander MCW, Kuipers EJ. Advances in fecal tests for colorectal cancer screening. Curr Treat Options Gastroenterol. 2016;14(1):152–162. doi:10.1007/s11938-016-0076-0
   PubMedGoogle Scholar
• Lincoln A, Lincoln A, Benton S, Sasieni P. PTH-27 Risk-stratified FIT for urgent colonoscopy in Lynch syndrome: a clinical service throughout the COVID-19 pandemic. Gut. 2021;70(Suppl 4):A184.
   Google Scholar
• Jones ER, Carter S, Flynn H, et al. DEveloping Tests for Endometrial Cancer deTection (DETECT): protocol for a diagnostic accuracy study of urine and vaginal samples for the detection of endometrial cancer by cytology in women with postmenopausal bleeding. BMJ Open. 2021;11(7):e050755. doi:10.1136/bmjopen-2021-050755
   PubMed Web of Science ®Google Scholar
• O’Flynn H, Ryan NAJ, Narine N, Shelton D, Rana D, Crosbie EJ. Diagnostic accuracy of cytology for the detection of endometrial cancer in urine and vaginal samples. Nat Commun. 2021;12(1):952. doi:10.1038/s41467-021-21257-6
   PubMed Web of Science ®Google Scholar
• Phelps R, Gallon R, Hayes C, et al. Detection of microsatellite instability in colonoscopic biopsies and postal urine samples from Lynch syndrome cancer patients using a multiplex PCR assay. Cancers. 2022;14(15). doi:10.3390/cancers14153838
   Web of Science ®Google Scholar
• Liu MC, Oxnard GR, Klein EA, et al. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Ann Oncol. 2020;31(6):745–759. doi:10.1016/j.annonc.2020.02.011
   PubMed Web of Science ®Google Scholar
• Chen X, Dong Z, Hubbell E, et al. Prognostic significance of blood-based multi-cancer detection in plasma cell-free DNA. Clin Cancer Res. 2021;27(15):4221–4229. doi:10.1158/1078-0432.CCR-21-0417
   PubMed Web of Science ®Google Scholar
• Ryan NAJ, Walker TDJ, Bolton J, et al. Histological and somatic mutational profiles of mismatch repair deficient endometrial tumours of different aetiologies. Cancers. 2021;13(18):4538. doi:10.3390/cancers13184538
   PubMed Web of Science ®Google Scholar
• Glaire MA, Ryan NAJ, Ijsselsteijn ME, et al. Discordant prognosis of mismatch repair deficiency in colorectal and endometrial cancer reflects variation in antitumour immune response and immune escape. J Pathol. 2022;257(3):340–351. doi:10.1002/path.5894
   PubMed Web of Science ®Google Scholar
• Kim JM, Chen DS. Immune escape to PD-L1/PD-1 blockade: seven steps to success (or failure). Ann Oncol. 2016;27(8):1492–1504. doi:10.1093/annonc/mdw217
   PubMed Web of Science ®Google Scholar
• Kaushik I, Ramachandran S, Zabel C, Gaikwad S, Srivastava SK. The evolutionary legacy of immune checkpoint inhibitors. Semin Cancer Biol. 2022;86:491–498. doi:10.1016/j.semcancer.2022.03.020
   PubMed Web of Science ®Google Scholar
• Le DT, Uram JN, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015;372(26):2509–2520. doi:10.1056/NEJMoa1500596
   PubMed Web of Science ®Google Scholar
• Evans B, Evans S. Immune checkpoint inhibitors in cancer: pharmacology and toxicities. Pharm J. 2018;10:1.
   Google Scholar
• Grivas P, Monk BJ, Petrylak D, et al. Immune checkpoint inhibitors as switch or continuation maintenance therapy in solid tumors: rationale and current state. Target Oncol. 2019;14(5):505–525. doi:10.1007/s11523-019-00665-1
   PubMed Web of Science ®Google Scholar