Application of molecular genetics and cytogenetics to breast cancer and soft tissue sarcomas

摘要: Summary Background Over the last decade there have been considerable advances in understanding of molecular events involved initiation and progression a wide range solid tumours. In many instances, cytogenetic abnormalities first indication that is mutated gene at particular locus. colonic polyposis, for example, loss 5q material man with disease indicated importance region led to subsequent cloning gene. Interestingly, this tumour supressor also seen approximately 20%–50% sporadic colorectal carcinomas, which suggests it may be important study these inherited syndromes identify genes more widely carcinogenesis. It realize order different occur unlikely fit into predictable chronological patterns, will great variation defects turnours otherwise appear morphologically similar common pattern clinical presentation progression. This because established tumours are probably composed number subclones level, clonal selection only take place if particrular mutation provides selective growth advantage or necessary stage progression, such as invasion metastasis. Multiple sites heterozygosity (LOH) identified tumours, yet unidentified genes. case breast cancer, LOH so 15% any locus considered random event merely an unstable genome. The difficulty is, therefore, differentiate critical tumorigenesis from epiphenomena. Probably approach examine early lesions, cancer by microdissection situ atypical lesion. possible, using paraffin blocks, look and, new technique comparative genomic hybridization, consistent areas amplification chromosome loss. some types, soft tissue sarcomas, however, restricted, often apparently involving single translocation few secondary changes. As same malignant characteristics epithelial future studies diverse groups, relation their biological behaviour, can expected provide information on pathways