{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:17:20Z","timestamp":1787066240841,"version":"build-2736575974"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2016,3,11]],"date-time":"2016-03-11T00:00:00Z","timestamp":1457654400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1007\/s10689-016-9893-5","type":"journal-article","created":{"date-parts":[[2016,3,11]],"date-time":"2016-03-11T06:42:11Z","timestamp":1457678531000},"page":"423-427","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":86,"title":["Genetic counseling and cascade genetic testing in Lynch syndrome"],"prefix":"10.1007","volume":"15","author":[{"given":"Heather","family":"Hampel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,3,11]]},"reference":[{"issue":"15","key":"9893_CR1","doi-asserted-by":"crossref","first-page":"7810","DOI":"10.1158\/0008-5472.CAN-06-1114","volume":"66","author":"H Hampel","year":"2006","unstructured":"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\u20137817","journal-title":"Cancer Res"},{"issue":"35","key":"9893_CR2","doi-asserted-by":"crossref","first-page":"5783","DOI":"10.1200\/JCO.2008.17.5950","volume":"26","author":"H Hampel","year":"2008","unstructured":"Hampel H, Frankel WL, Martin E et al (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26(35):5783\u20135788","journal-title":"J Clin Oncol"},{"issue":"18","key":"9893_CR3","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1056\/NEJMoa043146","volume":"352","author":"H Hampel","year":"2005","unstructured":"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\u20131860","journal-title":"N Engl J Med"},{"issue":"19","key":"9893_CR4","doi-asserted-by":"crossref","first-page":"9603","DOI":"10.1158\/0008-5472.CAN-07-2308","volume":"67","author":"H Hampel","year":"2007","unstructured":"Hampel H, Panescu J, Lockman J et al (2007) Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 67(19):9603","journal-title":"Cancer Res"},{"issue":"2","key":"9893_CR5","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s10689-013-9611-5","volume":"12","author":"H Hampel","year":"2013","unstructured":"Hampel H, de la Chapelle A (2013) How do we approach the goal of identifying everybody with Lynch syndrome? Fam Cancer 12(2):313\u2013317","journal-title":"Fam Cancer"},{"issue":"22","key":"9893_CR6","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1001\/jama.2011.743","volume":"305","author":"V Bonadona","year":"2011","unstructured":"Bonadona V, Bonaiti B, Olschwang S et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305(22):2304\u20132310","journal-title":"JAMA"},{"issue":"2","key":"9893_CR7","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1053\/j.gastro.2008.04.026","volume":"135","author":"L Senter","year":"2008","unstructured":"Senter L, Clendenning M, Sotamaa K et al (2008) The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135(2):419\u2013428","journal-title":"Gastroenterology"},{"issue":"8","key":"9893_CR8","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1038\/ajg.2014.186","volume":"109","author":"FM Giardiello","year":"2014","unstructured":"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\u20131179","journal-title":"Am J Gastroenterol"},{"key":"9893_CR9","unstructured":"NCCN (2015) National Comprehensive Cancer Network clinical practice guidelines in oncology: Colorectal Cancer Screening. V.1.2015. http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_colon.pdf"},{"issue":"2","key":"9893_CR10","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ajg.2014.435","volume":"110","author":"S Syngal","year":"2015","unstructured":"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 110(2):223\u2013262 (quiz 263)","journal-title":"Am J Gastroenterol"},{"issue":"6","key":"9893_CR11","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1136\/gutjnl-2012-304356","volume":"62","author":"HF Vasen","year":"2013","unstructured":"Vasen HF, 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\u2013823","journal-title":"Gut"},{"issue":"5","key":"9893_CR12","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0016-5085(00)70168-5","volume":"118","author":"HJ Jarvinen","year":"2000","unstructured":"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\u2013834","journal-title":"Gastroenterology"},{"issue":"28","key":"9893_CR13","doi-asserted-by":"crossref","first-page":"4793","DOI":"10.1200\/JCO.2009.23.7784","volume":"27","author":"HJ Jarvinen","year":"2009","unstructured":"Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K, Peltomaki P, Aaltonen LA, Mecklin JP (2009) Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27(28):4793\u20134797","journal-title":"J Clin Oncol"},{"issue":"3","key":"9893_CR14","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1056\/NEJMoa052627","volume":"354","author":"KM Schmeler","year":"2006","unstructured":"Schmeler KM, Lynch HT, Chen LM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354(3):261\u2013269","journal-title":"N Engl J Med"},{"issue":"2","key":"9893_CR15","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.cgh.2009.10.003","volume":"8","author":"C Engel","year":"2010","unstructured":"Engel C, Rahner N, Schulmann K et al (2010) Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol. 8(2):174\u2013182","journal-title":"Clin Gastroenterol Hepatol."},{"issue":"7","key":"9893_CR16","doi-asserted-by":"crossref","first-page":"2300","DOI":"10.1053\/j.gastro.2010.02.053","volume":"138","author":"HF Vasen","year":"2010","unstructured":"Vasen HF, Abdirahman M, Brohet R et al (2010) One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 138(7):2300\u20132306","journal-title":"Gastroenterology"},{"key":"9893_CR17","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1016\/S0140-6736(11)61049-0","volume":"378","author":"J Burn","year":"2011","unstructured":"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 378:2081\u20132087","journal-title":"Lancet"},{"issue":"3","key":"9893_CR18","doi-asserted-by":"crossref","first-page":"146","DOI":"10.3121\/cmr.2012.1100.ps1-08","volume":"10","author":"D Cross","year":"2012","unstructured":"Cross D, Rahm A, Le A et al (2012) PS1-08: Lynch syndrome screening pattering in colorectal cancer patients in a large multi-institutional cohort. Clinical Medicine and Research 10(3):146","journal-title":"Clinical Medicine and Research"},{"key":"9893_CR19","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/BF02053699","volume":"34","author":"H Vasen","year":"1991","unstructured":"Vasen H, Mecklin J-P, Khan P, Lynch H (1991) The international collaborative group on hereditary non-polyposis colorectal cancer. Dis Colon Rectum 34:424\u2013425","journal-title":"Dis Colon Rectum"},{"issue":"6","key":"9893_CR20","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","volume":"116","author":"H Vasen","year":"1999","unstructured":"Vasen H, Watson P, Mecklin J-P, Lynch H (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116(6):1453\u20131456","journal-title":"Gastroenterology"},{"issue":"23","key":"9893_CR21","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1093\/jnci\/89.23.1758","volume":"89","author":"M Rodriguez-Bigas","year":"1997","unstructured":"Rodriguez-Bigas M, Boland C, Hamilton S et al (1997) National cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidlines. J Natl Cancer Inst 89(23):1758\u20131762","journal-title":"J Natl Cancer Inst"},{"issue":"4","key":"9893_CR22","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1093\/jnci\/djh034","volume":"96","author":"A Umar","year":"2004","unstructured":"Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261\u2013268","journal-title":"J Natl Cancer Inst"},{"issue":"6","key":"9893_CR23","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1038\/ajg.2009.135","volume":"104","author":"F Kastrinos","year":"2009","unstructured":"Kastrinos F, Allen JI, Stockwell DH et al (2009) Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol 104(6):1508\u20131518","journal-title":"Am J Gastroenterol"},{"issue":"12","key":"9893_CR24","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1001\/jama.296.12.1469","volume":"296","author":"J Balmana","year":"2006","unstructured":"Balmana J, Stockwell DH, Steyerberg EW et al (2006) Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 296(12):1469\u20131478","journal-title":"JAMA"},{"issue":"1","key":"9893_CR25","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1053\/j.gastro.2010.08.021","volume":"140","author":"F Kastrinos","year":"2011","unstructured":"Kastrinos F, Steyerberg EW, Mercado R et al (2011) The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 140(1):73\u201381","journal-title":"Gastroenterology"},{"issue":"1","key":"9893_CR26","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1053\/j.gastro.2007.10.042","volume":"134","author":"F Balaguer","year":"2008","unstructured":"Balaguer F, Balmana J, Castellvi-Bel S et al (2008) Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 134(1):39\u201346","journal-title":"Gastroenterology"},{"key":"9893_CR27","unstructured":"Society AC (2016) Key statistics for colorectal cancer. http:\/\/www.cancer.org\/cancer\/colonandrectumcancer\/detailedguide\/colorectal-cancer-key-statistics . Accessed 2 May 2016"},{"issue":"1","key":"9893_CR28","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/GIM.0b013e31818fa2ff","volume":"11","author":"Recommendations from the EGAPP Working Group","year":"2009","unstructured":"Recommendations from the EGAPP Working Group (2009) genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 11(1):35\u201341","journal-title":"Genet Med"},{"key":"9893_CR29","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1097\/01.AOG.0000456325.50739.72","volume":"124","author":"Committee on Practice Bulletins-Gynecology; Society of Gynecologic Oncology","year":"2014","unstructured":"Committee on Practice Bulletins-Gynecology; Society of Gynecologic Oncology (2014) ACOG practice bulletin No. 147: Lynch syndrome. Obstet Gynecol 124:1042\u20131054","journal-title":"Obstet Gynecol"},{"issue":"1","key":"9893_CR30","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/GIM.0b013e31818fa2db","volume":"11","author":"GE Palomaki","year":"2009","unstructured":"Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN (2009) EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 11(1):42\u201365","journal-title":"Genet Med"},{"issue":"3","key":"9893_CR31","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1200\/JCO.2005.01.086","volume":"23","author":"S Popat","year":"2005","unstructured":"Popat S, Hubner R, Houlston RS (2005) Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 23(3):609\u2013618","journal-title":"J Clin Oncol"},{"issue":"10","key":"9893_CR32","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/j.ejca.2009.04.018","volume":"45","author":"G Des Guetz","year":"2009","unstructured":"Des Guetz G, Schischmanoff O, Nicolas P, Perret GY, Morere JF, Uzzan B (2009) Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis. Eur J Cancer 45(10):1890\u20131896","journal-title":"Eur J Cancer"},{"issue":"20","key":"9893_CR33","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1056\/NEJMc1510353","volume":"373","author":"LA Diaz Jr","year":"2015","unstructured":"Diaz LA Jr, Le DT (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 373(20):1979","journal-title":"N Engl J Med"},{"issue":"10","key":"9893_CR34","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1200\/JCO.2011.38.4719","volume":"30","author":"LC Beamer","year":"2012","unstructured":"Beamer LC, Grant ML, Espenschied CR et al (2012) Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol 30(10):1058\u20131063","journal-title":"J Clin Oncol"},{"issue":"10","key":"9893_CR35","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/gim.2014.31","volume":"16","author":"D Cragun","year":"2014","unstructured":"Cragun D, DeBate RD, Vadaparampil ST, Baldwin J, Hampel H, Pal T (2014) Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through. Genet Med 16(10):773\u2013782","journal-title":"Genet Med"},{"issue":"9","key":"9893_CR36","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.cgh.2013.04.044","volume":"11","author":"RN Sharaf","year":"2013","unstructured":"Sharaf RN, Myer P, Stave CD, Diamond LC, Ladabaum U (2013) Uptake of genetic testing by relatives of lynch syndrome probands: a systematic review. Clin Gastroenterol Hepatol 11(9):1093\u20131100","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"3","key":"9893_CR37","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.cgh.2007.12.014","volume":"6","author":"EM Stoffel","year":"2008","unstructured":"Stoffel EM, Ford B, Mercado RC et al (2008) Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 6(3):333\u2013338","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"4","key":"9893_CR38","doi-asserted-by":"crossref","first-page":"860","DOI":"10.3390\/healthcare3040860","volume":"3","author":"SD Grosse","year":"2015","unstructured":"Grosse SD (2015) When is genomic testing cost-effective? Testing for Lynch syndrome in patients with newly-diagnosed colorectal cancer and their relatives. Healthcare 3(4):860\u2013878","journal-title":"Healthcare"},{"issue":"6","key":"9893_CR39","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/gim.2015.53","volume":"17","author":"SD Grosse","year":"2015","unstructured":"Grosse SD, Palomaki GE, Mvundura M, Hampel H (2015) The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates. Genet Med 17(6):510\u2013511","journal-title":"Genet Med"},{"issue":"2","key":"9893_CR40","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/GIM.0b013e3181cd666c","volume":"12","author":"M Mvundura","year":"2010","unstructured":"Mvundura M, Grosse SD, Hampel H, Palomaki GE (2010) The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 12(2):93\u2013104","journal-title":"Genet Med"},{"issue":"4","key":"9893_CR41","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1097\/01.mol.0000174152.76554.d6","volume":"16","author":"SG Hadfield","year":"2005","unstructured":"Hadfield SG, Humphries SE (2005) Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 16(4):428\u2013433","journal-title":"Curr Opin Lipidol"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9893-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-016-9893-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9893-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:46:18Z","timestamp":1559238378000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-016-9893-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,11]]},"references-count":41,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["9893"],"URL":"https:\/\/doi.org\/10.1007\/s10689-016-9893-5","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,11]]}}}