The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

References

• PalomakiGEMcClainMRMelilloSHampelHLThibodeauSNEGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndromeGenet Med2009111426519125127
   PubMed Web of Science ®Google Scholar
• EgoavilCAlendaCCastillejoAPrevalence of Lynch syndrome among patients with newly diagnosed endometrial cancersPLoS One2013811e7973724244552
   PubMed Web of Science ®Google Scholar
• WeissmanSBurtRChurchJIdentification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice GuidelineJ Genet Couns201221448449322167527
   PubMed Web of Science ®Google Scholar
• TutlewskaKLubinskiJKurzawskiGGermline deletions in the EPCAM gene as a cause of Lynch syndrome: literature reviewHered Cancer Clin Pract2013111923938213
   PubMed Web of Science ®Google Scholar
• VasenHMecklinJPKhanPMLynchHTThe International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Dis Colon Rectum19913454244252022152
   PubMed Web of Science ®Google Scholar
• VasenHFWatsonPMecklinJPLynchHTNew clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCCGastroenterology199911661453145610348829
   PubMed Web of Science ®Google Scholar
• LiuTWahlbergSBurekELindblomPRubioCLindblomAMicrosatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancerGenes Chromosomes Cancer2000271172510564582
   PubMed Web of Science ®Google Scholar
• SyngalSFoxEAEngCKolodnerRDGarberJESensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1J Med Genet200037964164510978352
   PubMed Web of Science ®Google Scholar
• LindorNMFamilial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndromeSurg Oncol Clin N Am200918463764519793571
   PubMed Web of Science ®Google Scholar
• HampelHStephensJAPukkalaECancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onsetGastroenterology2005129241542116083698
   PubMed Web of Science ®Google Scholar
• ProvenzaleDJaspersonKAhnenDJNCCN guidlines v1.2014. Colorectal cancer screeningNCCN Guidelines 2014 Available from: http://www.nccn.orgAccessed June 5, 2014
   Google Scholar
• RamsoekhDWagnerAvan LeerdamMCancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical managementHered Cancer Clin Pract2009711720028567
   PubMed Web of Science ®Google Scholar
• WatsonPVasenHFMecklinJPThe risk of extra-colonic, extra-endometrial cancer in the Lynch syndromeInt J Cancer2008123244444918398828
   PubMed Web of Science ®Google Scholar
• Lin-HurtubiseKMYheulonCGGaglianoRALynchHTExcess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1J Surg Oncol2013108743343724122742
   PubMed Web of Science ®Google Scholar
• BagliettoLLindorNMDowtyJGRisks of Lynch syndrome cancers for MSH6 mutation carriersJ Natl Cancer Inst2010102319320120028993
   PubMedGoogle Scholar
• BonadonaVBonaitiBOlschwangSCancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndromeJAMA2011305222304231021642682
   PubMed Web of Science ®Google Scholar
• SenterLClendenningMSotamaaKThe clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsGastroenterology2008135241942818602922
   PubMed Web of Science ®Google Scholar
• LigtenbergMLKuiperRGeurts van KesselAHoogerbruggeNEPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patientsFam Cancer201312216917423264089
   PubMed Web of Science ®Google Scholar
• JärvinenHJAarnioMMustonenHControlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancerGastroenterology118582983410784581
   PubMed Web of Science ®Google Scholar
• de Vos tot Nederveen CappelWHNagengastFMGriffioenGSurveillance for Hereditary Nonpolyposis Colorectal CancerDis Colon Rectum200245121588159412473880
   PubMed Web of Science ®Google Scholar
• JohnsonPMGallingerSMcLeodRSSurveillance colonoscopy in individuals at risk for hereditary nonpolyposis colorectal cancer: an evidence-based reviewDis Colon Rectum2006491809516284887
   PubMed Web of Science ®Google Scholar
• MesseriniLMoriSZampiGPathologic features of hereditary non-polyposis colorectal cancerTumori19968221141168644372
   PubMed Web of Science ®Google Scholar
• ShiaJKlimstraDSNafaKValue of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasmsAm J Surg Pathol20052919610415613860
   PubMed Web of Science ®Google Scholar
• WatsonPLinKMRodriguez-BigasMAColorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family membersCancer19988322592669669808
   PubMed Web of Science ®Google Scholar
• StiglianoVAssisiDCosimelliMSurvival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patientsJ Exp Clin Cancer Res2008273918803843
   PubMed Web of Science ®Google Scholar
• DrescherKMSharmaPLynchHTCurrent hypotheses on how microsatellite instability leads to enhanced survival of Lynch syndrome patientsClin Dev Immunol2010201017043220631828
   PubMedGoogle Scholar
• BarrowEHillJEvansDGCancer risk in Lynch SyndromeFam Cancer201312222924023604856
   PubMed Web of Science ®Google Scholar
• ChoiYHCotterchioMMcKeown-EyssenGPenetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in OntarioHered Cancer Clin Pract2009711419698169
   PubMed Web of Science ®Google Scholar
• KempersMJEKuiperRPOckeloenCWRisk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort studyLancet Oncol2011121495521145788
   PubMed Web of Science ®Google Scholar
• BagliettoLLindorNMDowtyJGRisks of Lynch syndrome cancers for MSH6 mutation carriersJ Natl Cancer Inst2010102319320120028993
   PubMedGoogle Scholar
• Pérez-CaborneroLInfanteMVelascoELastraEMinerCDuránMGenotype–phenotype correlation in MMR mutation-positive families with Lynch syndromeInt J Colorectal Dis20132891195120123588873
   PubMed Web of Science ®Google Scholar
• GoeckeTSchulmannKEngelCGenotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC ConsortiumJ Clin Oncol200624264285429216908935
   PubMed Web of Science ®Google Scholar
• StoffelEMukherjeeBRaymondVMCalculation of risk of colorectal and endometrial cancer among patients with Lynch syndromeGastroenterology200913751621162719622357
   PubMed Web of Science ®Google Scholar
• PlaschkeJEngelCKrügerSLower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer ConsortiumJ Clin Oncol200422224486449415483016
   PubMed Web of Science ®Google Scholar
• American Cancer SocietyColorectal Cancer Facts and Figures 2011–2013Atlanta, GAAmerican Cancer Society2011
   Google Scholar
• HampelHFrankelWLMartinEFeasibility of screening for Lynch syndrome among patients with colorectal cancerJ Clin Oncol200826355783578818809606
   PubMed Web of Science ®Google Scholar
• WinAParrySParryBRisk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriersAnn Surg Oncol20132061829183623358792
   PubMed Web of Science ®Google Scholar
• EdelsteinDLAxilbundJBaxterMRapid development of colorectal neoplasia in patients with Lynch syndromeClin Gastroenterol Hepatol20119434034321070872
   PubMed Web of Science ®Google Scholar
• WinawerSFletcherRRexDColorectal cancer screening and surveillance: clinical guidelines and rationale: update based on new evidenceGastroenterology2003124254456012557158
   PubMed Web of Science ®Google Scholar
• LuKHDinhMKohlmannWGynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndromeObstet Gynecol2005105356957415738026
   PubMed Web of Science ®Google Scholar
• WalshCSBlumAWaltsALynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screeningGynecol Oncol2010116351652120034658
   PubMed Web of Science ®Google Scholar
• ObermairAYouldenDRYoungJPRisk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinomaInt J Cancer2010127112678268420533284
   PubMed Web of Science ®Google Scholar
• BroaddusRRLynchHTChenLMPathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinomaCancer20061061879416323174
   PubMed Web of Science ®Google Scholar
• GargKSoslowRALynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinomaJ Clin Pathol200962867968419638537
   PubMed Web of Science ®Google Scholar
• LeenenCHvan LierMGvan DoornHCProspective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤70 yearsGynecol Oncol2012125241442022306203
   PubMed Web of Science ®Google Scholar
• SolimanPTBroaddusRRSchmelerKMWomen with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome?J Clin Oncol200523369344935016361634
   PubMed Web of Science ®Google Scholar
• WalshMDCummingsMCBuchananDDMolecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patientsClin Cancer ResMarch 1520081461692170018310315
   PubMed Web of Science ®Google Scholar
• KimMKSongSYDoI-GSynchronous gynecologic malignancy and preliminary results of Lynch syndromeJ Gynecol Oncol201122423323822247799
   PubMed Web of Science ®Google Scholar
• WatsonPBützowRLynchHTThe clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancerGynecol Oncol200182222322811531271
   PubMed Web of Science ®Google Scholar
• RyanPMulliganAMAronsonMComparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registriesCancer2012118368168821721000
   PubMed Web of Science ®Google Scholar
• MasudaK BKYanokuraMCarcinoma of the lower uterine segment (LUS): clinicopathological characteristics and association with Lynch syndromeCurr Genomics2011121252921886452
   PubMed Web of Science ®Google Scholar
• WestinSNLacourRAUrbauerDLCarcinoma of the lower uterine segment: a newly described association with Lynch syndromeJ Clin Oncol200826365965597119001318
   PubMed Web of Science ®Google Scholar
• MalanderSRambechEKristofferssonUThe contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancerGynecol Oncol2006101223824316360201
   PubMed Web of Science ®Google Scholar
• DomanskaKMalanderSMasbackANilbertMOvarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40Int J Gynecol Cancer200717478979317343610
   PubMed Web of Science ®Google Scholar
• EngelCLoefflerMSteinkeVRisks of less common cancers in proven mutation carriers with Lynch syndromeJ Clin Oncol201230354409441523091106
   PubMed Web of Science ®Google Scholar
• PalTPermuth-WeyJSellersTAA review of the clinical relevance of mismatch-repair deficiency in ovarian cancerCancer2008113473374218543306
   PubMed Web of Science ®Google Scholar
• ChuiMHGilksCBCooperKClarkeBAIdentifying Lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtypeAdv Anat Pathol201320637838624113308
   PubMed Web of Science ®Google Scholar
• LynchHTCaseyMJSnyderCLHereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and managementMol Oncol2009329713719383374
   PubMed Web of Science ®Google Scholar
• KetabiZBartumaKBernsteinIOvarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumorsGynecol Oncol2011121346246521388660
   PubMed Web of Science ®Google Scholar
• AarnioMSankilaRPukkalaECancer risk in mutation carriers of DNA-mismatch-repair genesInt J Cancer199981221421810188721
   PubMed Web of Science ®Google Scholar
• CapelleLGVan GriekenNCLingsmaHFRisk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in The NetherlandsGastroenterology2010138248749219900449
   PubMed Web of Science ®Google Scholar
• ChunNFordJMGenetic testing by cancer site: stomachCancer J201218435536322846738
   PubMed Web of Science ®Google Scholar
• ParkJGKimDWHongCWGerm line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative StudyClin Cancer Res20061211 Pt 13389339316740762
   PubMed Web of Science ®Google Scholar
• GuptaRPanerGPAminMBNeoplasms of the upper urinary tract: a review with focus on urothelial carcinoma of the pelvicalyceal system and aspects related to its diagnosis and reportingAdv Anat Pathol200815312713918434765
   PubMed Web of Science ®Google Scholar
• van der PostRSKiemeneyLALigtenbergMJRisk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriersJ Med Genet201047746447020591884
   PubMed Web of Science ®Google Scholar
• AarnioMSäilyMJuholaMUroepithelial and kidney carcinoma in Lynch syndromeFam Cancer201211339540122476430
   PubMed Web of Science ®Google Scholar
• CrockettDGWagnerDGHolmängSJohanssonSLLynchHTUpper urinary tract carcinoma in Lynch syndrome casesJ Urol201118551627163021419447
   PubMed Web of Science ®Google Scholar
• SkeldonSCSemotiukKAronsonMPatients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancerEur Urol201363237938522883484
   PubMed Web of Science ®Google Scholar
• DasguptaTWilsonLDYuJBA retrospective review of 1349 cases of sebaceous carcinomaCancer2009115115816518988294
   PubMed Web of Science ®Google Scholar
• RobertsMRiegert-JohnsonDThomasBScreening for Muir–Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasmsJ Genet Couns201322339340523212176
   PubMed Web of Science ®Google Scholar
• SouthCDHampelHComerasIWestmanJAFrankelWLde la ChapelleAThe frequency of Muir–Torre syndrome among Lynch syndrome familiesJ Natl Cancer Inst2008100427728118270343
   PubMedGoogle Scholar
• PontiGLosiLPedroniMValue of MLH1 and MSH2 mutations in the appearance of Muir–Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomasJ Invest Dermatol2006126102302230716826164
   PubMed Web of Science ®Google Scholar
• KastrinosFMukherjeeBTayobNRisk of pancreatic cancer in families with Lynch syndromeJAMA2009302161790179519861671
   PubMed Web of Science ®Google Scholar
• VasenHFASandersEACMTaalBGThe risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC)Int J Cancer19966544224258621220
   PubMed Web of Science ®Google Scholar
• HaraldsdottirSHampelHWeiLProstate cancer incidence in males with Lynch syndromeGenet Med Epub1162014
   Web of Science ®Google Scholar
• RyanSJenkinsMAWinAKRisk of prostate cancer in Lynch syndrome: a systematic review and meta-analysisCancer Epidemiol Biomarkers Prev201423343744924425144
   PubMed Web of Science ®Google Scholar
• RaymondVMMukherjeeBWangFElevated risk of prostate cancer among men with Lynch syndromeJ Clin Oncol201331141713171823530095
   PubMed Web of Science ®Google Scholar
• BuerkiNGautierLKovacMEvidence for breast cancer as an integral part of Lynch syndromeGenes Chromosomes Cancer2012511839122034109
   PubMed Web of Science ®Google Scholar
• WinALindorNJenkinsMRisk of breast cancer in Lynch syndrome: a systematic reviewBreast Cancer Res2013152R2723510156
   PubMed Web of Science ®Google Scholar
• WenYHBrogiEZengZDNA mismatch repair deficiency in breast carcinoma: a pilot study of triple-negative and non-triple-negative tumorsAm J Surg Pathol201236111700170822992699
   PubMed Web of Science ®Google Scholar
• D’ArcyCWenYHStadlerZKBrogiEShiaJSynchronous breast cancers with different morphologic and molecular phenotypes occurring in Lynch syndrome: what does the heterogeneity imply?Am J Surg Pathol201135111743174821997695
   PubMed Web of Science ®Google Scholar
• JensenUSundeLTimshelSMismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndromeBreast Cancer Res Treat2010120377778219575290
   PubMed Web of Science ®Google Scholar
• SchmelerKMLynchHTChenLMProphylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndromeN Engl J Med2006354326126916421367
   PubMed Web of Science ®Google Scholar
• YurgelunMBMercadoRRosenblattMImpact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndromeGynecol Oncol2012127354455122940489
   PubMed Web of Science ®Google Scholar
• MecklinJPAarnioMLääräEDevelopment of colorectal tumors in colonoscopic surveillance in Lynch syndromeGastroenterology200713341093109817919485
   PubMed Web of Science ®Google Scholar
• VasenHFABlancoIAktan-CollanKRevised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsGut201362681282323408351
   PubMed Web of Science ®Google Scholar
• GroverSSyngalSRisk assessment, genetic testing, and management of Lynch syndromeJ Natl Compr Canc Netw2010819810520064292
   PubMed Web of Science ®Google Scholar
• LindorNMPetersenGMHadleyDWRecommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic reviewJAMA2006296121507151717003399
   PubMed Web of Science ®Google Scholar
• StupartDAGoldbergPAAlgarURamesarRSurveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutationColorectal Dis200911212613019143775
   PubMed Web of Science ®Google Scholar
• JarvinenHJRenkonen-SinisaloLAktan-CollanKPeltomakiPAaltonenLAMecklinJPTen years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family membersJ Clin Oncol200927284793479719720893
   PubMed Web of Science ®Google Scholar
• StoffelEMTurgeonDKStockwellDHMissed adenomas during colonoscopic surveillance in individuals with Lynch syndrome (hereditary nonpolyposis colorectal cancer)Cancer Prev Res (Phila)20081647047519138994
   PubMed Web of Science ®Google Scholar
• LuKHDanielsMEndometrial and ovarian cancer in women with Lynch syndrome: update in screening and preventionFam Cancer201312227327723765559
   PubMed Web of Science ®Google Scholar
• BaucomRBWisePEEndoscopic and surgical management of hereditary nonpolyposis colorectal cancerClin Colon Rectal Surg2012252909623730223
   PubMedGoogle Scholar
• ParrySWinAKParryBMetachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgeryGut201160795095721193451
   PubMed Web of Science ®Google Scholar
• HaanstraJFde Vos Tot Nederveen CappelWHGopieJPQuality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomyDis Colon Rectum201255665365922595844
   PubMed Web of Science ®Google Scholar
• Rodriguez-BigasMMöesleinGSurgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome)Fam Cancer201312229530023508345
   PubMed Web of Science ®Google Scholar
• HampelHFrankelWPanescuJScreening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patientsCancer Res200666157810781716885385
   PubMed Web of Science ®Google Scholar
• DownesMRAlloGMcCluggageWGReview of findings in prophylactic gynaecological specimens in Lynch syndrome with literature review and recommendations for grossingHistopathology Epub242014
   Web of Science ®Google Scholar
• KaramurzinYSoslowRAGargKHistologic evaluation of prophylactic hysterectomy and oophorectomy in Lynch syndromeAm J Surg Pathol201337457958523426126
   PubMed Web of Science ®Google Scholar
• BurnJGerdesAMMacraeFLong-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trialLancet201137898092081208722036019
   PubMed Web of Science ®Google Scholar
• LuKHLooseDSYatesMSProspective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndromeCancer Prev Res (Phila)20136877478123639481
   PubMed Web of Science ®Google Scholar
• RubinsteinWSWeissmanSMManaging hereditary gastrointestinal cancer syndromes: the partnership between genetic counselors and gastroenterologistsNat Clin Pract Gastroenterol Hepatol200851056958218797444
   PubMedGoogle Scholar
• ClaesE DLEvers-KieboomsPredictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impactPatient Educ Couns200465226527415530764
   PubMed Web of Science ®Google Scholar
• MeiserBCollinsVWarrenRPsychological impact of genetic testing for hereditary non-polyposis colorectal cancerClin Genet200466650251115521977
   PubMed Web of Science ®Google Scholar
• EsplenMJStucklessNGallingerSDevelopment and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndromeClin Genet201180541542321883167
   PubMed Web of Science ®Google Scholar
• Aktan-CollanKKääriäinenHJärvinenHPsychosocial consequences of predictive genetic testing for lynch syndrome and associations to surveillance behaviour in a 7-year follow-up studyFam Cancer201312463964623512527
   PubMed Web of Science ®Google Scholar
• StoffelEMMercadoRCKohlmannWPrevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndromeAm J Gastroenterol201010581851186020354509
   PubMed Web of Science ®Google Scholar
• KetabiZMosgaardBJGerdesA-MLadelundSBernsteinITAwareness of endometrial cancer risk and compliance with screening in hereditary nonpolyposis colorectal cancerObstet Gynecol201212051005101223090516
   PubMed Web of Science ®Google Scholar
• HampelHFrankelWLMartinEScreening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)N Engl J Med Overseas Ed20053521818511860
   PubMed Web of Science ®Google Scholar
• EGAPPRecommendations 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 relativesGenet Med2009111354119125126
   PubMed Web of Science ®Google Scholar
• ClarkeBACooperKIdentifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemasAdv Anat Pathol201219423123822692286
   PubMed Web of Science ®Google Scholar
• Rodriguez-BigasMABolandCRHamiltonSRA National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and bethesda guidelinesJ Natl Cancer Inst19978923175817629392616
   PubMedGoogle Scholar
• UmarABolandCRTerdimanJPRevised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityJ Natl Cancer Inst200496426126814970275
   PubMed Web of Science ®Google Scholar
• RamsoekhDWagnerAvan LeerdamMEA high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic settingGut200857111539154418625694
   PubMed Web of Science ®Google Scholar
• DinhTARosnerBIAtwoodJCHealth benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general populationCancer Prev Res (Phila)20114192221088223
   PubMed Web of Science ®Google Scholar
• GudgeonJWilliamsJBurtRWSamowitzWSnowGWilliamsMLynch Syndrome screening implementation: business analysis by a healthcare systemAm J Manag Care2011178e288e30021851136
   PubMed Web of Science ®Google Scholar
• MvunduraMGrosseSDHampelHPalomakiGEThe cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancerGenet Med20101229310420084010
   PubMed Web of Science ®Google Scholar
• LadabaumUWangGTerdimanJStrategies to identify the Lynch syndrome among patients with colorectal cancerAnn Intern Med20111552697921768580
   PubMed Web of Science ®Google Scholar
• WilliamsJLWilliamsMSInformed consent and immunohistochemistry screening for Lynch syndromeGenet Med201113984884921885923
   PubMed Web of Science ®Google Scholar
• ChubakBHealdBSharpRRInformed consent to microsatellite instability and immunohistochemistry screening for Lynch syndromeGenet Med201113435636021407081
   PubMed Web of Science ®Google Scholar
• CohenSCurrent Lynch syndrome tumor screening practices: a survey of genetic counselorsJ Genet Couns2013231110
   Web of Science ®Google Scholar
• BellcrossCABedrosianSRDanielsEImplementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meetingGenet Med201214115216222237445
   PubMed Web of Science ®Google Scholar
• JaspersonKColorectal cancer: cascade genetic testing in Lynch syndrome: room for improvementNat Rev Gastroenterol Hepatol201310950650823835491
   PubMed Web of Science ®Google Scholar
• SouthCDYearsleyMMartinEArnoldMFrankelWHampelHImmunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancerGenet Med2009111181281719752738
   PubMed Web of Science ®Google Scholar
• WardRLHicksSHawkinsNJPopulation-based molecular screening for Lynch syndrome: implications for personalized medicineJ Clin Oncol201331202554256223733757
   PubMed Web of Science ®Google Scholar
• CragunDMaloTLPalTShibataDVadaparampilSTColorectal cancer survivors’ interest in genetic testing for hereditary cancer: implications for universal tumor screeningGenet Test Mol Biomarkers201216649349922224634
   PubMed Web of Science ®Google Scholar
• HallMJHerdaMMHandorfEADirect-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility studyGenet Med Epub512014
   Web of Science ®Google Scholar
• HealdBPlesecTLiuXImplementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical centerJ Clin Oncol201331101336134023401454
   PubMed Web of Science ®Google Scholar
• CragunDDebateRVadaparampilSTBaldwinJHampelHPalTComparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-throughGenet Med Epub3202014
   Web of Science ®Google Scholar
• SharafRNMyerPStaveCDDiamondLCLadabaumUUptake of genetic testing by relatives of lynch syndrome probands: a systematic reviewClin Gastroenterol Hepatol20131191093110023669308
   PubMed Web of Science ®Google Scholar
• TomiakESamsonASpectorNReflex testing for Lynch syndrome: if we build it, will they come? Lessons learned from the uptake of clinical genetics services by individuals with newly diagnosed colorectal cancer (CRC)Fam Cancer2014131758224002367
   PubMed Web of Science ®Google Scholar
• StoffelEMFordBMercadoRCSharing genetic test results in Lynch syndrome: communication with close and distant relativesClin Gastroenterol Hepatol20086333333818258490
   PubMed Web of Science ®Google Scholar
• MensenkampARVogelaarIPvan Zelst-StamsWASomatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumorsGastroenterology20141463643646. e64824333619
   PubMed Web of Science ®Google Scholar
• CoppolaDNicosiaSDotyAUncertainty in the utility of immunohistochemistry in mismatch repair protein expression in epithelial ovarian cancerAnticancer Res201232114963496923155266
   PubMed Web of Science ®Google Scholar
• LeeJHCragunDThompsonZAssociation between IHC and MSI testing to identify mismatch repair-deficient patients with ovarian cancerGenet Test Mol Biomarkers201418422923524592941
   PubMed Web of Science ®Google Scholar
• AbbasOMahalingamMCutaneous sebaceous neoplasms as markers of Muir–Torre syndrome: a diagnostic algorithmJ Cutan Pathol200936661361919515040
   PubMed Web of Science ®Google Scholar
• OrtaLKlimstraDSQinJTowards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient’s age or other clinical characteristicsAm J Surg Pathol200933693494419342947
   PubMed Web of Science ®Google Scholar
• PlocharczykEFFrankelWLHampelHPetersSBMismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndromeAm J Dermatopathol201335219119522722469
   PubMed Web of Science ®Google Scholar
• RobertsMERiegert-JohnsonDLThomasBCA clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndromeGenet Med Epub362014
   Web of Science ®Google Scholar
• WilliamsASHuangW-YThe analysis of microsatellite instability in extracolonic gastrointestinal malignancyPathology201345654055224018804
   PubMed Web of Science ®Google Scholar
• KaramurzinYZengZStadlerZKUnusual DNA mismatch repair–deficient tumors in Lynch syndrome: a report of new cases and review of the literatureHum Pathol201243101677168722516243
   PubMed Web of Science ®Google Scholar
• WimmerKKratzCPVasenHFADiagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium “Care for CMMRD” (C4CMMRD)J Med Genet201451635536524737826
   PubMed Web of Science ®Google Scholar
• PoleyJWWagnerAHoogmansMMBiallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignanciesCancer2007109112349235617440981
   PubMed Web of Science ®Google Scholar
• DurnoCAHolterSShermanPMGallingerSThe gastrointestinal phenotype of germline biallelic mismatch repair gene mutationsAm J Gastroenterol2010105112449245620531397
   PubMed Web of Science ®Google Scholar
• DewanwalaAChittendenARosenblattMAttitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch SyndromeFam Cancer201110354955621567236
   PubMed Web of Science ®Google Scholar
• WinAKDowtyJGEnglishDRBody mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genesBr J Cancer2011105116216921559014
   PubMed Web of Science ®Google Scholar
• WinAKDowtyJGAntillYCBody mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriersObstet Gynecol2011117489990521422863
   PubMed Web of Science ®Google Scholar
• Surveillance, Epidemiology, and End Results Program (SEER)Cancer Stat Fact SheetsBethesda, MDNational Institutes of Health Available from: http://seer.cancer.gov/statfacts/html/breast.htmlAccessed June 12, 2014
   Google Scholar