Recent advances in Lynch syndrome

Leah H. Biller1, Sapna Syngal2,3,4, Matthew B. Yurgelun2,3,4
1Beth Israel Deaconess Medical Center, 450 Brookline Avenue, Boston, MA, 02215, USA.
2Dana-Farber Cancer Institute, Boston, USA
3Harvard Medical School, Boston, USA;
4Brigham & Women’s Hospital, Boston, USA

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Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer. https://doi.org/10.1038/nrc3878

Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260(5109):816–819

Aaltonen LA, Peltomaki P, Leach FS et al (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260(5109):812–816

Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363(6429):558–561. https://doi.org/10.1038/363558a0

Hampel H, Frankel WL, Martin E et al (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352(18):1851–1860. https://doi.org/10.1056/NEJMoa043146

Hampel H, Frankel W, Panescu J et al (2006) Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66(15):7810–7817. https://doi.org/10.1158/0008-5472.CAN-06-1114

NCCN clinical practice guidelines in oncology: genetic/familial high risk assessment: colorectal. Version 1.2018. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf . Published July 12, 2018. Accessed 1 Aug 2018

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. https://doi.org/10.1038/ajg.2014.435

Giardiello FM, Allen JI, Axilbund JE et al (2014) 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 109(8):1159–1179. https://doi.org/10.1038/ajg.2014.186

Balmana J, Balaguer F, Cervantes A, Arnold D (2013) Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann Oncol Off J Eur Soc Med Oncol 24(Suppl 6):vi73–80. https://doi.org/10.1093/annonc/mdt209

Vasen HFA, Blanco I, Aktan-Collan K et al (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62(6):812–823. https://doi.org/10.1136/gutjnl-2012-304356

Stoffel EM, Mangu PB, Gruber SB et al (2015) 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 33(2):209–217. https://doi.org/10.1200/JCO.2014.58.1322

NCCN clinical practice guidelines in oncology: uterine neoplasm. Version 1.2019. https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf . Published October 17, 2018. Accessed 25 Oct 2018

SGO Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer. https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer/ . Published March 2014. Accessed Oct 2018

Jarvinen HJ, Aarnio M, Mustonen H et al (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118(5):829–834

Schmeler KM, Lynch HT, Chen L et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354(3):261–269. https://doi.org/10.1056/NEJMoa052627

Burn J, Gerdes AM, MacRae F et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081–2087. https://doi.org/10.1016/S0140-6736(11)61049-0

Ribic CM, Sargent DJ, Moore MJ et al (2003) Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 349(3):247–257. https://doi.org/10.1056/NEJMoa022289

Sargent DJ, Marsoni S, Monges G et al (2010) Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 28(20):3219–3226. https://doi.org/10.1200/JCO.2009.27.1825

Hampel H, Frankel WL, Martin E et al (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. https://doi.org/10.1200/JCO.2008.17.5950

Yurgelun MB, Kulke MH, Fuchs CS et al (2017) Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol 35(10):1086–1095. https://doi.org/10.1200/JCO.2016.71.0012

Win AK, Jenkins MA, Dowty JG et al (2017) Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev. https://doi.org/10.1158/1055-9965.EPI-16-0693

Ponti G, Castellsague E, Ruini C, Percesepe A, Tomasi A (2015) Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome. Clin Genet 87(6):507–516. https://doi.org/10.1111/cge.12529

Haraldsdottir S, Rafnar T, Frankel WL et al. Comprehensive population-wide detection of Lynch syndrome in Iceland. ASCO Meet Abstr. 2016

Dominguez-Valentin M, Nilbert M, Wernhoff P et al (2013) Mutation spectrum in South American Lynch syndrome families. Hered Cancer Clin Pract. https://doi.org/10.1186/1897-4287-11-18

Guindalini RSC, Win AK, Gulden C et al (2015) Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. Gastroenterology. https://doi.org/10.1053/j.gastro.2015.07.052

Dymerska D, Gołębiewska K, Kuświk M et al (2017) New EPCAM founder deletion in Polish population. Clin Genet. https://doi.org/10.1111/cge.13026

Haraldsdottir S, Rafnar T, Frankel WL et al (2017) Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun 8:1–11. https://doi.org/10.1038/ncomms14755

Cancer Genom Atlas (2012) Comprehensive molecular characterization of human colon and rectal cancer. Nature. https://doi.org/10.1038/nature11252

Yurgelun MB, Goel A, Hornick JL et al (2012) Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps. Cancer Prev Res 5(4):574 LP–L582

Ahadova A, Gallon R, Gebert J et al (2018) Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. Int J Cancer 143(1):139–150. https://doi.org/10.1002/ijc.31300

Kloor M, Huth C, Voigt AY et al (2012) Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study. Lancet Oncol 13(6):598–606. https://doi.org/10.1016/S1470-2045(12)70109-2

Ahadova A, von Knebel Doeberitz M, Bläker H, Kloor M (2016) CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome. Fam Cancer 15(4):579–586. https://doi.org/10.1007/s10689-016-9899-z

Moller P, Seppala T, Bernstein I et al (2017) Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut 66(9):1657–1664. https://doi.org/10.1136/gutjnl-2016-311403

Rodriguez-Soler M, Perez-Carbonell L, Guarinos C et al (2013) Risk of cancer in cases of suspected Lynch syndrome without germline mutation. Gastroenterology 144(5):924–926. https://doi.org/10.1053/j.gastro.2013.01.044

Hemminger JA, Pearlman R, Haraldsdottir S et al (2018) Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome. Hum Pathol. https://doi.org/10.1016/j.humpath.2018.04.017

Sourrouille I, Coulet F, Lefevre JH et al (2013) Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer. https://doi.org/10.1007/s10689-012-9568-9

Haraldsdottir S, Hampel H, Tomsic J et al (2014) Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 147(6):1308–1316.e1. https://doi.org/10.1053/j.gastro.2014.08.041

Hampel H, Pearlman R, Beightol M et al (2018) Assessment of tumor sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer. JAMA Oncol 4(6):806–813. https://doi.org/10.1001/jamaoncol.2018.0104

Luba DG, DiSario JA, Rock C et al (2018) Community practice implementation of a self-administered version of PREMM1,2,6 to assess risk for Lynch syndrome. Clin Gastroenterol Hepatol 16(1):49–58. https://doi.org/10.1016/j.cgh.2017.06.038

Kastrinos F, Uno H, Ukaegbu C et al (2017) Development & validation of the PREMM5 model for comprehensive risk assessment of lynch syndrome. J Clin Oncol. https://doi.org/10.1200/JCO.2016.69.6120

Yurgelun MB, Allen B, Kaldate RR et al (2015) Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 149(3):604 – 13.e20. https://doi.org/10.1053/j.gastro.2015.05.006

Ring KL, Bruegl AS, Allen BA et al (2016) Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Mod Pathol 29(11):1381–1389. https://doi.org/10.1038/modpathol.2016.135

Pearlman R, WL F, Swanson B (2017) al et. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 3(4):464–471. https://doi.org/10.1001/jamaoncol.2016.5194

Stoffel EM, Koeppe E, Everett J et al (2018) Germline genetic features of young individuals with colorectal cancer. Gastroenterology 154(4):897–905. https://doi.org/10.1053/j.gastro.2017.11.004

Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME (2013) Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol. https://doi.org/10.1200/JCO.2012.46.9403

Katona BW, Yurgelun MB, Garber JE et al (2018) A counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genet Med. https://doi.org/10.1038/gim.2018.12

Kurian AW, Li Y, Hamilton AS et al (2017) Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol 35(20):2232–2239. https://doi.org/10.1200/JCO.2016.71.6480

Latham Schwark A, Srinivasan P, Kemel Y et al (2018) Pan-cancer microsatellite instability to predict for presence of Lynch syndrome. J Clin Oncol 36(18_suppl):LBA1509–LBA1509. https://doi.org/10.1200/JCO.2018.36.18_suppl.LBA1509

Barrow E, Hill J, Evans DG (2013) Cancer risk in Lynch syndrome. Fam Cancer 12(2):229–240. https://doi.org/10.1007/s10689-013-9615-1

Dowty JG, Win AK, Buchanan DD et al (2013) Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 34(3):490–497. https://doi.org/10.1002/humu.22262

Møller P, Seppälä TT, Bernstein I et al (2018) Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 67(7):1306 LP–L1316

Sanchez A, Navarro M, Ocaña T et al (2017) Colorectal cancer incidence in Lynch syndrome patients: first report of a Multicenter Nation-Wide Study. Gastroenterology 152(5):S552. https://doi.org/10.1016/S0016-5085(17)32003-6

ten Broeke SW, van der Klift HM, Tops CMJ et al. Cancer risks for PMS2 -associated Lynch syndrome. J Clin Oncol. https://doi.org/10.1200/JCO.2018.78.4777

Engel C, Vasen HF, Seppala T et al (2018) No difference in colorectal cancer incidence or stage at detection by colonoscopy among 3 countries with different Lynch syndrome surveillance policies. Gastroenterology. https://doi.org/10.1053/j.gastro.2018.07.030

Møller P, Seppälä T, Bernstein I et al (2017) Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66(3):464–472. https://doi.org/10.1136/gutjnl-2015-309675

Saeterdal I, Bjorheim J, Lislerud K et al (2001) Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer. Proc Natl Acad Sci USA 98(23):13255–13260. https://doi.org/10.1073/pnas.231326898

Sclafani F (2017) PD-1 inhibition in metastatic dMMR/MSI-H colorectal cancer. Lancet Oncol 18(9):1141–1142. https://doi.org/10.1016/S1470-2045(17)30512-0

Overman MJ, Lonardi S, Wong KYM et al (2018) Durable clinical benefit with nivolumab plus ipilimumab in DNA mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer. J Clin Oncol 36(8):773–779. https://doi.org/10.1200/JCO.2017.76.9901

Overman MJ, McDermott R, Leach JL et al (2017) Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer (CheckMate 142): an open-label, multicentre, phase 2 study. Lancet Oncol 18(9):1182–1191. https://doi.org/10.1016/S1470-2045(17)30422-9

Le DT, Uram JN, Wang H et al (2015) PD-1 Blockade in tumors with mismatch-repair deficiency. N Engl J Med 372(26):2509–2520. https://doi.org/10.1056/NEJMoa1500596

Le DT, Durham JN, Smith KN et al (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357(6349):409–413. https://doi.org/10.1126/science.aan6733

Movahedi M, Bishop DT, Macrae F et al (2015) Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: a prospective investigation in the CAPP2 study. J Clin Oncol 33(31):3591–3597. https://doi.org/10.1200/JCO.2014.58.9952

Spira A, Disis ML, Schiller JT et al (2016) Leveraging premalignant biology for immune-based cancer prevention. Proc Natl Acad Sci USA 113(39):10750–10758. https://doi.org/10.1073/pnas.1608077113

Schwitalle Y, Kloor M, Eiermann S et al (2008) Immune response against frameshift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers. Gastroenterology 134(4):988–997. https://doi.org/10.1053/j.gastro.2008.01.015

Majumder S, Shah R, Elias J et al (2018) A cancer vaccine approach for personalized treatment of Lynch syndrome. https://doi.org/10.1038/s41598-018-30466-x

Chang K, Taggart MW, Reyes-Uribe L et al (2018) Immune profiling of premalignant lesions in patients with Lynch syndrome. JAMA Oncol 4(8):1085–1092. https://doi.org/10.1001/jamaoncol.2018.1482