RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families 英文参考文献.docVIP

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RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families 英文参考文献.doc

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RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families 英文参考文献

RAD51CGermlineMutationsinBreastandOvarian CancerCasesfromHigh-RiskFamilies JessicaClague1.,GregWilhoite2.,AaronAdamson2,AdamBailis3,JeffreyN.Weitzel1,SusanL. Neuhausen2* 1DivisionofClinicalCancerGenetics,BeckmanResearchInstituteattheCityofHopeNationalMedicalCenter,Duarte,California,UnitedStatesofAmerica,2Department ofPopulationSciences,BeckmanResearchInstituteattheCityofHopeNationalMedicalCenter,Duarte,California,UnitedStatesofAmerica,3DepartmentofMolecular andCellularBiology,BeckmanResearchInstituteattheCityofHopeNationalMedicalCenter,Duarte,California,UnitedStatesofAmerica Abstract BRCA1 andBRCA2 are the most well-known breast cancer susceptibility genes. Additional genes involved in DNArepair havebeenidentifiedaspredisposingtobreastcancer.Onesuchgene,RAD51C,isessentialforhomologousrecombination repair.SeverallikelypathogenicRAD51CmutationshavebeenidentifiedinBRCA1-andBRCA2-negativebreastandovarian cancer families. We performed complete sequencing of RAD51C in germline DNA of 286 female breast and/or ovarian cancer cases with a family history of breast and ovarian cancers, who had previously tested negative for mutations in BRCA1andBRCA2.Wescreened133breastcancercases,119ovariancancercases,and34withbothbreastandovarian cancers. Fifteen DNA sequence variants were identified; including four intronic, one 59 UTR, one promoter, three synonymous, and six non-synonymous variants. None were truncating. The in-silico SIFT and Polyphen programs were usedtopredictpossiblepathogenicityofthesixnon-synonomousvariantsbasedonsequenceconservation.G153Dand T287Awerepredictedtobelikelypathogenic.Twoadditionalvariants,A126TandR214Calteraminoacidsinimportant domains of the protein such that they could be pathogenic. Two-hybrid screening and immunoblot analyses were performed to assess the functionality of these four non-synonomous variants in yeast. The RAD51C-G153D protein displayed nodetectable interaction witheitherXRCC3orRAD51B, andRAD51C-R214C displayed significantly decreas