Familial Cancer Trinity College, Dublin家族性癌症三位一体学院都柏林.pptVIP

Familial Cancer General Principles Mutations inherited through germ cells contribute to a minority of tumours Two hits usually needed germline/somatic Germline mutations in repressor genes may act in a recessive or dominant negative way Sporadic tumours may acquire mutations in a similar way to genetic tumours Different germ-line mutations may have a common end-point Germline mutations tend to affect specific cell types Defective DNA repair results in increased CA risk Strong familial link Retinoblastoma - age4 Bilateral cancers familial – unilateral somatic Onl;y affects eye and bone Chr 13q