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cancer breast study mutation breast cancer breast cancer risk university family research brca 1 variant carrier genetic department haplotype allele center analysis control institute association grant erasmus universiteit rotterdam hospital genetics service centre missense promoter genet foundation patient table expression effect susceptibility polymorphism brca 1 gene syndrome germany region service oncology breast cancer cases germline downloaded group medicine cancer institute protein chek 2 chek 2 gene consortium binding .1100delc tumour li-fraumeni li-fraumeni syndrome netherland analyses taqman individual transcription probe wild-type health 1054r sequence assay modi fiers erasmu epidemiology cancer research p 1054r rotterdam biomarker population genotyped index obstetric universiteit