158
Views
12
CrossRef citations to date
0
Altmetric
Review

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

&
Pages 53-61 | Published online: 24 Jul 2013

References

  • WildingAInghamSLLallooFLife expectancy in hereditary cancer predisposing diseases: an observational studyJ Med Genet201249426426922362873
  • EvansDGO’HaraCWildingAMortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989Eur J Hum Genet201119111187119121694737
  • PinsonSNeurofibromatosis type 1 or von Recklinghausen’s diseaseParisOrphanet Encyclopedia2002 Available from: https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdfAccessed July 4, 2013
  • DuongTASbidianEValeyrie-AllanoreLMortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980–2006 in FranceOrphanet J Rare Dis201161821542925
  • MasoccoMKodraYVichiMMortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995–2006)Orphanet J Rare Dis201161121439034
  • FriedmanJMEpidemiology of neurofibromatosis type 1Am J Med Genet19998911610469430
  • RasmussenSAYangQFriedmanJMMortality in neurofibromatosis 1: an analysis using U.S. death certificatesAm J Hum Genet20016851110111811283797
  • ZöllerMERembeckBOdénASamuelssonMAngervallLMalignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish populationCancer19977911212521319179058
  • HusonSMCompstonDAClarkPHarperPSA genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severityJ Med Genet198926117047112511318
  • EvansDGHowardEGiblinCBirth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register serviceAm J Med Genet A2010152A232733220082463
  • ZöllerMRembeckBAkessonHOAngervallLLife expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, SwedenActa Derm Venereol19957521361407604643
  • SørensenSAMulvihillJJNielsenALong-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasmsN Engl J Med198631416101010153083258
  • EvansDGHusonSMDonnaiDA genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severityJ Med Genet199229128418461479598
  • TrofatterJAMacCollinMMRutterJLA novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressorCell19937257918008453669
  • BaserMEFriedmanJMAeschlimanDPredictors of the risk of mortality in neurofibromatosis 2Am J Hum Genet200271471572312235555
  • MautnerVFTatagibaMLindenauMSpinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and varietyAJR Am J Roentgenol199516549519557676998
  • EvansDGHusonSMDonnaiDA clinical study of type 2 neurofibromatosisQ J Med1992843046036181484939
  • NugentKPSpigelmanADPhillipsRKLife expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposisDis Colon Rectum19933611105910628223060
  • GalleTSJuelKBülowSCauses of death in familial adenomatous polyposisScand J Gastroenterol199934880881210499482
  • MallinsonEKNewtonKFBowenJThe impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposisGut201059101378138220660077
  • HeiskanenILuostarinenTJärvinenHJImpact of screening examinations on survival in familial adenomatous polyposisScand J Gastroenterol200035121284128711199368
  • AkcaglarSYavascaogluIVuruskanHOktayBGenetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosisInt Urol Nephrol200840361562018074239
  • MaddockIRMoranAMaherERA genetic register for von Hippel-Lindau diseaseJ Med Genet19963321201278929948
  • MaherERYatesJRHarriesRClinical features and natural history of von Hippel-Lindau diseaseQ J Med199077283115111632274658
  • ManskiTJHeffnerDKGlennGMEndolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau diseaseJAMA199727718146114669145719
  • EvansDGFarndonPABurnellLDGattamaneniHRBirchJMThe incidence of Gorlin syndrome in 173 consecutive cases of medulloblastomaBr J Cancer19916459599611931625
  • EvansDGLadusansERimmerSBurnellLDThakkerNFarndonPAComplications of the naevoid basal cell carcinoma syndrome: results of a population based studyJ Med Genet19933064604648326488
  • García de MarcosJADean-FerrerAArroyo RodríguezSCalderón-PolancoJAlamillos GranadosFJPobletEBasal cell nevus syndrome: clinical and genetic diagnosisOral Maxillofac Surg200913422523019795138
  • DeanPGvan HeerdenJAFarleyDRAre patients with multiple endocrine neoplasia type I prone to premature death?World J Surg200024111437144111038219
  • EbelingTVierimaaOKytöläSLeistiJSalmelaPIEffect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutationsJ Clin Endocrinol Metab20048973392339615240620
  • CupistiKWolfARaffelALong-term clinical and biochemical follow-up in medullary thyroid carcinoma: a single institution’s experience over 20 yearsAnn Surg2007246581582117968174
  • MachensALorenzKSekullaCMolecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new milleniumEur J Endocrinol2013168330731423211574
  • SpigelmanADMurdayVPhillipsRKCancer and the Peutz-Jeghers syndromeGut19893011158815902599445
  • van LierMGWestermanAMWagnerAHigh cancer risk and increased mortality in patients with Peutz-Jeghers syndromeGut201160214114721205875
  • McCollIBusxeyHJVealeAMMorsonBCJuvenile polyposis coliProc R Soc Med19645789689714214792
  • JohnstonGWEakinsDGoughADJuvenile polyposis coliUlster Med J19683721701745700242
  • DelnatteCSanlavilleDMougenotJFContiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesAm J Hum Genet20067861066107416685657
  • HoweJRRothSRingoldJCMutations in the SMAD4/DPC4 gene in juvenile polyposisScience19982805366108610889582123
  • DunlopMGBritish Society for GastroenterologyAssociation of Coloproctology for Great Britain and IrelandGuidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndromeGut200251Suppl 5V21V2712221036
  • BrosensLAAvan HatternAHylindLMRisk of colorectal in juvenile polyposisGut200756796596717303595
  • NelenMRKremerHKoningsIBNovel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlationsEur J Hum Genet19997326727310234502
  • NelenMRPadbergGWPeetersEALocalization of the gene for Cowden disease to chromosome 10q22–23Nat Genet19961311141168673088
  • EngCWill the real Cowden syndrome please stand up: revised diagnostic criteriaJ Med Genet2000371182883011073535
  • HanssenAMFrynsJPCowden syndromeJ Med Genet19953221171197760320
  • SquarizeCHCastilhoRMGutkindJSChemoprevention and treatment of experimental Cowden’s disease by mTOR inhibition with rapamycinCancer Res200868177066707218757421
  • SimpsonLParsonsRPTEN: life as a tumor suppressorExp Cell Res20012641294111237521
  • VarleyJMEvansDGBirchJMLi-Fraumeni syndrome – a molecular and clinical reviewBr J Cancer19977611149218725
  • MaiPLMalkinDGarberJELi-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortiumCancer Genet20122051047948722939227
  • VillaniATaboriUSchiffmanJBiochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational studyLancet Oncol201112655956721601526
  • de JongAEHendriksYMKleibeukerJHDecrease in mortality in Lynch syndrome families because of surveillanceGastroenterology2006130366567116530507
  • LindorNMPetersenGMHadleyDWRecommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic reviewJAMA2006296121507151717003399
  • PalomakiGEMcClainMRMelilloSHampelHLThibodeauSNEGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndromeGenet Med2009111426519125127
  • JärvinenHJAarnioMMustonenHControlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancerGastroenterology2000118582983410784581
  • de Vos tot Nederveen CappelWHBuskensEvan DuijvendijkPDecision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defectGut200352121752175514633956
  • ChunYSLindorNMSmyrkTCGermline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?Cancer200192118118711443625
  • BerxGBeckerKFHöflerHvan RoyFMutations of the human E-cadherin (CDH1) geneHum Mutat19981242262379744472
  • WaneboHJKennedyBJChmielJSteeleGWinchesterDOsteenRCancer of the stomach. A patient care study by the American College of SurgeonsAnn Surg199321855835928239772
  • GuildfordPHopkinsJHarrawayJE-cadherin germline mutations in familial gastric cancerNature199839266744024059537325
  • NortonJAHamCMVan DamJCDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancerAnn Surg2007245687387917522512
  • FitzgeraldRCHardwickRHuntsmanDInternational Gastric Cancer Linkage ConsortiumHereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future researchJ Med Genet201047743644420591882
  • Brooks-WilsonARKaurahPSurianoGGermline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteriaJ Med Genet200441750851715235021
  • LynchHTKaurahPWirtzfeldDHereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomyCancer2008112122655266318442100
  • SchragDKuntzKMGarberJEWeeksJCDecision analysis – effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutationsN Engl J Med199733620146514719148160
  • KurianAWMunozDFRustPOnline tool to guide decisions for BRCA1/2 mutation carriersJ Clin Oncol201230549750622231042
  • SigalBMMunozDFKurianAWPlevritisSKA simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriersCancer Epidemiol Biomarkers Prev20122171066107722556274
  • ByrdLMShentonAMaherERBetter life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancerCancer Epidemiol Biomarkers Prev20081761535154218559571
  • DomchekSMFriebelTMSingerCFAssociation of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortalityJAMA2010304996797520810374
  • DomchekSMFriebelTMNeuhausenSLMortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort studyLancet Oncol20067322322916510331
  • MøllerPBorgAEvansDGSurvival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomyInt J Cancer2002101655555912237897
  • RebbeckTRLynchHTNeuhausenSLPrevention and Observation of Surgical End Points Study GroupProphylactic oophorectomy in carriers of BRCA1 or BRCA2 mutationsN Engl J Med2002346211616162212023993
  • EvansDGSusnerwalaIDawsonJWoodwardEMaherERLallooFRisk of breast cancer in male BRCA2 carriersJ Med Genet2010471071071120587410
  • MoranAO‘HaraCKhanSRisk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutationsFam Cancer201211223524222187320
  • NewtonKHillJ5-FU and mismatch repair deficient colorectal cancer: is it time to consider a change in practice?Colorectal Dis201012770670720105202
  • GrindedalEMRenkonen-SinisaloLVasenHSurvival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindredsJ Med Genet20104729910219635727
  • VarleyJMMcGownGThorncroftMAn extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53J Med Genet199532129429458825920
  • SinghalSBirchJMKerrBLashfordLEvansDGNeurofibromatosis type 1 and sporadic optic gliomasArch Dis Child2002871657012089128
  • EvansDGBaserMEMcGaughranJSharifSHowardEMoranAMalignant peripheral nerve sheath tumours in neurofibromatosis 1J Med Genet200239531131412011145