Genetic Anticipation Is Associated with Telomere Shortening in Hereditary Breast Cancer 英文参考文献.docVIP

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Genetic Anticipation Is Associated with Telomere Shortening in Hereditary Breast Cancer 英文参考文献.doc

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Genetic Anticipation Is Associated with Telomere Shortening in Hereditary Breast Cancer 英文参考文献

GeneticAnticipationIsAssociatedwithTelomere ShorteninginHereditaryBreastCancer BeatrizMartinez-Delgado1,2.*, KiraYanowsky1,2.,LuciaInglada-Perez2,3,SamuelDomingo1,2 MiguelUrioste1,2,AnaOsorio1,2,JavierBenitez1,2 , 1HumanGeneticsGroup,SpanishNationalCancerResearchCentre(CNIO),Madrid,Spain,2CentrodeInvestigacio′nBiome′dicaenReddeEnfermedadesRaras(CIBERER), SpanishNationalCancerResearchCentre,Madrid,Spain,3HereditaryEndocrineCancerGroup,SpanishNationalCancerResearchCentre,Madrid,Spain Abstract Thereisincreasingevidencesuggestingthatshorttelomeresandsubsequentgenomicinstabilitycontributetomalignant transformation. Telomere shortening has been described as a mechanism to explain genetic anticipation in dyskeratosis congenitaandLi-Fraumenisyndrome.Sincegeneticanticipationhasbeenobservedinfamilialbreastcancer,weaimedto studytelomerelengthinfamilialbreastcancerpatientsandhypothesizedthatgeneticdefectscausingthisdiseasewould affect telomere maintenance resulting in shortened telomeres. Here, we first investigated age anticipation in mother- daughter pairs with breast cancer in 623 breast cancer families, classified as BRCA1, BRCA2, and BRCAX. Moreover, we analyzedtelomerelengthinDNAfromperipheralbloodleukocytesbyquantitativePCRinasetof198hereditarybreast cancerpatients,andcomparedthemwith267controlsamplesand71sporadicbreastcancerpatients.Changesintelomere length in mother-daughter pairs from breast cancer families and controls were also evaluated to address differences through generations. We demonstrated that short telomeres characterize hereditary but not sporadic breast cancer. We have defined a group of BRCAX families with short telomeres, suggesting that telomere maintenance genes might be susceptibilitygenesforbreastcancer.Significantly,wedescribedthatprogressivetelomereshorteningisassociatedwith earlier onset of breast cancer in successive generations of affected families. Our results provide evidence that telomere shorteningisassociatedwithearlierageofcanceronsetin