{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T21:47:46Z","timestamp":1789940866501,"version":"4.0.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2016,9,30]],"date-time":"2016-09-30T00:00:00Z","timestamp":1475193600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002794","name":"Cancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002794","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Swedish state under the LUA\/ALF agreement concerning research and education of doctors","award":["no 76310"],"award-info":[{"award-number":["no 76310"]}]},{"DOI":"10.13039\/501100005009","name":"Stiftelsen Assar Gabrielssons Fond","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003745","name":"Stiftelserna Wilhelm och Martina Lundgrens","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003745","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Health and Medical Care Committee of the Regional Executive Board, Region V\u00e4stra G\u00f6taland, Project grant from Laboratory division Sahlgrenska University Hospita"},{"name":"The Nilsson-Ehle Fondation"},{"name":"The Sahlgrenska University Hospital Foundation"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s10689-016-9934-0","type":"journal-article","created":{"date-parts":[[2016,9,30]],"date-time":"2016-09-30T11:07:21Z","timestamp":1475233641000},"page":"195-203","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Expanding the genotype\u2013phenotype spectrum in hereditary colorectal cancer by gene panel testing"],"prefix":"10.1007","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4083-6748","authenticated-orcid":false,"given":"Anna","family":"Rohlin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Rambech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Kvist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therese","family":"T\u00f6rngren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frida","family":"Eieng\u00e5rd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Lundstam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theofanis","family":"Zagoras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Gebre-Medhin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5ke","family":"Borg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Bj\u00f6rk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mef","family":"Nilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margareta","family":"Nordling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,9,30]]},"reference":[{"key":"9934_CR1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","volume":"491","author":"GR Abecasis","year":"2012","unstructured":"Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56\u201365","journal-title":"Nature"},{"key":"9934_CR2","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.ajhg.2016.06.015","volume":"99","author":"R Adam","year":"2016","unstructured":"Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S (2016) Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis. Am J Hum Genet 99:337\u2013351","journal-title":"Am J Hum Genet"},{"issue":"Unit7","key":"9934_CR3","first-page":"20","volume":"7","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7(Unit7):20","journal-title":"Curr Protoc Hum Genet Chapter"},{"key":"9934_CR4","doi-asserted-by":"crossref","first-page":"3027","DOI":"10.1038\/ajg.2009.542","volume":"104","author":"PY Cheah","year":"2009","unstructured":"Cheah PY, Wong YH, Chau YP, Loi C, Lim KH, Lim JF, Koh PK, Eu KW (2009) Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. Am J Gastroenterol 104:3027\u20133033","journal-title":"Am J Gastroenterol"},{"key":"9934_CR5","doi-asserted-by":"crossref","first-page":"11883","DOI":"10.1038\/ncomms11883","volume":"7","author":"D Chubb","year":"2016","unstructured":"Chubb D, Broderick P (2016) Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Nat Commun 7:11883","journal-title":"Nat Commun"},{"key":"9934_CR6","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1111\/cge.12359","volume":"86","author":"D Cragun","year":"2014","unstructured":"Cragun D, Radford C, Dolinsky JS, Caldwell M, Chao E, Pal T (2014) Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Clin Genet 86:510","journal-title":"Clin Genet"},{"key":"9934_CR7","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s10897-014-9714-7","volume":"23","author":"H Fecteau","year":"2014","unstructured":"Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S (2014) The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns 23:633\u2013639","journal-title":"J Genet Couns"},{"key":"9934_CR8","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/cge.12023","volume":"84","author":"C Fernandez-Rozadilla","year":"2013","unstructured":"Fernandez-Rozadilla C, Brea-Fernandez A, Bessa X, Alvarez-Urturi C, Abuli A, Clofent J, Paya A, Jover R, Xicola R, Llor X, Andreu M, Castells A, Carracedo A, Castellvi-Bel S, Ruiz-Ponte C (2013) BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency. Clin Genet 84:94\u201396","journal-title":"Clin Genet"},{"key":"9934_CR9","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1200\/JCO.2014.59.3665","volume":"33","author":"CJ Gallego","year":"2015","unstructured":"Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, Hisama FM, Pritchard CC, Grady WM, Burke W, Jarvik GP, Veenstra DL (2015) Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis. J Clin Oncol 33:2084\u20132091","journal-title":"J Clin Oncol"},{"key":"9934_CR10","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/humu.22539","volume":"35","author":"P Grandval","year":"2014","unstructured":"Grandval P, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Tinat J, Uhrhammer N, Beroud C, Olschwang S (2014) The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. Hum Mutat 35:532\u2013536","journal-title":"Hum Mutat"},{"key":"9934_CR11","doi-asserted-by":"publisher","unstructured":"Hahn MM, de Voer RM, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP, van Kessel AG (2016) The genetic heterogeneity of colorectal cancer predisposition\u2014guidelines for gene discovery. Cell Oncol. doi: 10.1007\/s13402-016-0284-6","DOI":"10.1007\/s13402-016-0284-6"},{"key":"9934_CR12","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/ng.2263","volume":"44","author":"E Jaeger","year":"2012","unstructured":"Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K, East J, Taylor J, Thomas H, Tomlinson I (2012) Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet 44:699\u2013703","journal-title":"Nat Genet"},{"key":"9934_CR13","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.gtc.2007.08.009","volume":"36","author":"JR Jass","year":"2007","unstructured":"Jass JR (2007) Gastrointestinal polyposes: clinical, pathological and molecular features. Gastroenterol Clin North Am 36:927\u2013946 viii","journal-title":"Gastroenterol Clin North Am"},{"key":"9934_CR14","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1741-7015-6-10","volume":"6","author":"G Kanter-Smoler","year":"2008","unstructured":"Kanter-Smoler G, Fritzell K, Rohlin A, Engwall Y, Hallberg B, Bergman A, Meuller J, Gronberg H, Karlsson P, Bjork J, Nordling M (2008) Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. BMC Med 6:10","journal-title":"BMC Med"},{"key":"9934_CR15","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1034\/j.1399-0004.2003.00008.x","volume":"63","author":"IJ Kim","year":"2003","unstructured":"Kim IJ, Park JH, Kang HC, Kim KH, Kim JH, Ku JL, Kang SB, Park SY, Lee JS, Park JG (2003) Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. Clin Genet 63:126\u2013130","journal-title":"Clin Genet"},{"key":"9934_CR16","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310\u2013315","journal-title":"Nat Genet"},{"key":"9934_CR17","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/gcc.20581","volume":"47","author":"MK Korhonen","year":"2008","unstructured":"Korhonen MK, Vuorenmaa E, Nystrom M (2008) The first functional study of MLH3 mutations found in cancer patients. Genes Chromosomes Cancer 47:803\u2013809","journal-title":"Genes Chromosomes Cancer"},{"issue":"6","key":"9934_CR18","doi-asserted-by":"crossref","first-page":"E559","DOI":"10.1002\/ijc.29149","volume":"136","author":"C Kraus","year":"2015","unstructured":"Kraus C, Rau TT, Lux P, Erlenbach-Wunsch K, Lohr S, Krumbiegel M, Thiel CT, Stohr R, Agaimy A, Croner RS, Sturzl M, Hohenberger W, Hartmann A, Reis A (2015) Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations. Int J Cancer 136(6):E559\u2013E568","journal-title":"Int J Cancer"},{"key":"9934_CR19","doi-asserted-by":"publisher","DOI":"10.1111\/ans.13483","author":"SE Kravochuck","year":"2016","unstructured":"Kravochuck SE, Church JM (2016) Hereditary non-polyposis colorectal cancer\/Lynch syndrome in three dimensions. ANZ J Surg. doi: 10.1111\/ans.13483","journal-title":"ANZ J Surg."},{"key":"9934_CR20","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081","journal-title":"Nat Protoc"},{"key":"9934_CR21","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1086\/386293","volume":"74","author":"L Lammi","year":"2004","unstructured":"Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P (2004) Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74:1043\u20131050","journal-title":"Am J Hum Genet"},{"key":"9934_CR22","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","volume":"42","author":"MJ Landrum","year":"2014","unstructured":"Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42:D980\u2013D985","journal-title":"Nucleic Acids Res"},{"key":"9934_CR23","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13073-015-0148-0","volume":"7","author":"Y Lin","year":"2015","unstructured":"Lin Y, Lin S, Baxter MD, Lin L, Kennedy SM, Zhang Z, Goodfellow PJ, Chapman WC, Davidson NO (2015) Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families. Genome Med 7:42","journal-title":"Genome Med"},{"key":"9934_CR24","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.7314\/APJCP.2012.13.5.2051","volume":"13","author":"C Liu","year":"2012","unstructured":"Liu C, Wang QS, Wang YJ (2012) The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. Asian Pac J Cancer Prev 13:2051\u20132055","journal-title":"Asian Pac J Cancer Prev"},{"key":"9934_CR25","doi-asserted-by":"crossref","first-page":"e0138221","DOI":"10.1371\/journal.pone.0138221","volume":"10","author":"H Liu","year":"2015","unstructured":"Liu H, Ding T, Zhan Y, Feng H (2015) A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia. Plos One 10:e0138221","journal-title":"Plos One"},{"key":"9934_CR26","doi-asserted-by":"crossref","first-page":"2777","DOI":"10.1002\/ajmg.a.36253","volume":"161a","author":"E Lucci-Cordisco","year":"2013","unstructured":"Lucci-Cordisco E, Risio M, Venesio T, Genuardi M (2013) The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A 161a:2777\u20132787","journal-title":"Am J Med Genet A"},{"key":"9934_CR27","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303","journal-title":"Genome Res"},{"key":"9934_CR28","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1186\/1471-2407-11-424","volume":"11","author":"DW Neklason","year":"2011","unstructured":"Neklason DW, Done MW, Sargent NR, Schwartz AG, Anton-Culver H, Griffin CA, Ahnen DJ, Schildkraut JM, Tomlinson GE, Strong LC, Miller AR, Stopfer JE, Burt RW (2011) Activating mutation in MET oncogene in familial colorectal cancer. BMC Cancer 11:424","journal-title":"BMC Cancer"},{"key":"9934_CR29","doi-asserted-by":"crossref","first-page":"e23","DOI":"10.1053\/j.gastro.2011.03.063","volume":"141","author":"TT Nieminen","year":"2011","unstructured":"Nieminen TT, Abdel-Rahman WM, Ristimaki A, Lappalainen M, Lahermo P, Mecklin JP, Jarvinen HJ, Peltomaki P (2011) BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 141:e23\u2013e26","journal-title":"Gastroenterology"},{"key":"9934_CR30","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/j.1463-1318.2009.01931.x","volume":"12","author":"JM O\u2019Riordan","year":"2010","unstructured":"O\u2019Riordan JM, O\u2019Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC (2010) Hereditary mixed polyposis syndrome due to a BMPR1A mutation. Colorectal Dis 12:570\u2013573","journal-title":"Colorectal Dis"},{"key":"9934_CR31","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng.2503","volume":"45","author":"C Palles","year":"2013","unstructured":"Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45:136\u2013144","journal-title":"Nat Genet"},{"key":"9934_CR32","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/gcc.22197","volume":"53","author":"W Pavicic","year":"2014","unstructured":"Pavicic W, Nieminen TT, Gylling A, Pursiheimo JP, Laiho A, Gyenesei A, Jarvinen HJ, Peltomaki P (2014) Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis. Genes Chromosomes Cancer 53:857\u2013864","journal-title":"Genes Chromosomes Cancer"},{"key":"9934_CR33","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotech 29:24\u201326","journal-title":"Nat Biotech"},{"key":"9934_CR34","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/gcc.22314","volume":"55","author":"A Rohlin","year":"2016","unstructured":"Rohlin A, Eiengard F, Lundstam U, Zagoras T, Nilsson S, Edsjo A, Pedersen J, Svensson J, Skullman S, Karlsson BG, Bjork J, Nordling M (2016) GREM1 and POLE variants in hereditary colorectal cancer syndromes. Genes Chromosomes Cancer 55:95\u2013106","journal-title":"Genes Chromosomes Cancer"},{"key":"9934_CR35","doi-asserted-by":"crossref","first-page":"4977","DOI":"10.1038\/onc.2011.201","volume":"30","author":"A Rohlin","year":"2011","unstructured":"Rohlin A, Engwall Y, Fritzell K, Goransson K, Bergsten A, Einbeigi Z, Nilbert M, Karlsson P, Bjork J, Nordling M (2011) Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. Oncogene 30:4977\u20134989","journal-title":"Oncogene"},{"key":"9934_CR36","doi-asserted-by":"crossref","first-page":"77","DOI":"10.3892\/ijo.2014.2410","volume":"45","author":"A Rohlin","year":"2014","unstructured":"Rohlin A, Zagoras T, Nilsson S, Lundstam U, Wahlstrom J, Hulten L, Martinsson T, Karlsson GB, Nordling M (2014) A mutation in POLE predisposing to a multi-tumour phenotype. Int J Oncol 45:77\u201381","journal-title":"Int J Oncol"},{"key":"9934_CR37","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1007\/s10620-014-3465-z","volume":"60","author":"NJ Samadder","year":"2015","unstructured":"Samadder NJ, Jasperson K, Burt RW (2015) Hereditary and common familial colorectal cancer: evidence for colorectal screening. Dig Dis Sci 60:734\u2013747","journal-title":"Dig Dis Sci"},{"key":"9934_CR38","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s10735-006-9062-5","volume":"37","author":"M Seifert","year":"2006","unstructured":"Seifert M, Reichrath J (2006) The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer. J Mol Histol 37:301\u2013307","journal-title":"J Mol Histol"},{"key":"9934_CR39","doi-asserted-by":"publisher","unstructured":"Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King M-C, Walsh T, Pritchard CC (2016) Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med. doi: 10.1038\/gim.2015.212","DOI":"10.1038\/gim.2015.212"},{"key":"9934_CR40","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s13053-015-0039-9","volume":"13","author":"M Simbolo","year":"2015","unstructured":"Simbolo M, Mafficini A, Agostini M, Pedrazzani C, Bedin C, Urso ED, Nitti D, Turri G, Scardoni M, Fassan M, Scarpa A (2015) Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. Hered Cancer Clin Pract 13:18","journal-title":"Hered Cancer Clin Pract"},{"key":"9934_CR41","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/cge.12503","volume":"88","author":"AK Snow","year":"2015","unstructured":"Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW, Neklason DW (2015) APC promoter 1B deletion in seven American families with familial adenomatous polyposis. Clin Genet 88:360\u2013365","journal-title":"Clin Genet"},{"key":"9934_CR42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"PD Stenson","year":"2014","unstructured":"Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1\u20139","journal-title":"Hum Genet"},{"key":"9934_CR43","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1053\/j.gastro.2014.07.031","volume":"147","author":"EM Stoffel","year":"2014","unstructured":"Stoffel EM, Eng C (2014) Exome sequencing in familial colorectal cancer: searching for needles in haystacks. Gastroenterology 147:554\u2013556","journal-title":"Gastroenterology"},{"key":"9934_CR44","doi-asserted-by":"crossref","first-page":"3005","DOI":"10.1002\/ijc.25003","volume":"126","author":"J Suchy","year":"2010","unstructured":"Suchy J, Cybulski C, Wokolorczyk D, Oszurek O, Gorski B, Debniak T, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dziuba I, Gogacz M, Wisniowski R, Wandzel P, Banaszkiewicz Z, Kurzawski G, Kladny J, Narod SA, Lubinski J (2010) CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer 126:3005\u20133009","journal-title":"Int J Cancer"},{"key":"9934_CR45","doi-asserted-by":"publisher","unstructured":"Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK (2015) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. doi: 10.1038\/gim.2015.166","DOI":"10.1038\/gim.2015.166"},{"key":"9934_CR46","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng.2854","volume":"46","author":"BA Thompson","year":"2014","unstructured":"Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46:107\u2013115","journal-title":"Nat Genet"},{"key":"9934_CR47","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/ng.2475","volume":"45","author":"I Tomlinson","year":"2013","unstructured":"Tomlinson I, Jaeger E, Leedham S, Thomas H (2013) Reply to \u201cThe classification of intestinal polyposis\u201d. Nat Genet 45:2\u20133","journal-title":"Nat Genet"},{"key":"9934_CR48","doi-asserted-by":"crossref","first-page":"9828","DOI":"10.3748\/wjg.v20.i29.9828","volume":"20","author":"L Valle","year":"2014","unstructured":"Valle L (2014) Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol 20:9828\u20139849","journal-title":"World J Gastroenterol"},{"key":"9934_CR49","doi-asserted-by":"crossref","first-page":"3506","DOI":"10.1093\/hmg\/ddu058","volume":"23","author":"L Valle","year":"2014","unstructured":"Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I (2014) New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet 23:3506\u20133512","journal-title":"Hum Mol Genet"},{"key":"9934_CR50","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1038\/ng.3287","volume":"47","author":"RD Weren","year":"2015","unstructured":"Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C (2015) A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47:668\u2013671","journal-title":"Nat Genet"},{"key":"9934_CR51","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1053\/gast.1997.v112.pm9024286","volume":"112","author":"SC Whitelaw","year":"1997","unstructured":"Whitelaw SC, Murday VA, Tomlinson IP, Thomas HJ, Cottrell S, Ginsberg A, Bukofzer S, Hodgson SV, Skudowitz RB, Jass JR, Talbot IC, Northover JM, Bodmer WF, Solomon E (1997) Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 112:327\u2013334","journal-title":"Gastroenterology"},{"key":"9934_CR52","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.archoralbio.2013.12.009","volume":"59","author":"S Wong","year":"2014","unstructured":"Wong S, Liu H, Bai B, Chang H, Zhao H, Wang Y, Han D, Feng H (2014) Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia. Arch Oral Biol 59:349\u2013353","journal-title":"Arch Oral Biol"},{"key":"9934_CR53","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.1016\/j.ejca.2011.03.025","volume":"47","author":"HP Xiang","year":"2011","unstructured":"Xiang HP, Geng XP, Ge WW, Li H (2011) Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. Eur J Cancer 47:2546\u20132551","journal-title":"Eur J Cancer"},{"issue":"604\u2013613","key":"9934_CR54","first-page":"e620","volume":"149","author":"MB Yurgelun","year":"2015","unstructured":"Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S (2015) Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology 149(604\u2013613):e620","journal-title":"Gastroenterology"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9934-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-016-9934-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-016-9934-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T17:58:33Z","timestamp":1718819913000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-016-9934-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,30]]},"references-count":54,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["9934"],"URL":"https:\/\/doi.org\/10.1007\/s10689-016-9934-0","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,30]]}}}