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- W1531597940 endingPage "86" @default.
- W1531597940 startingPage "41" @default.
- W1531597940 abstract "Familial cancer syndromes are defined by an inherited predisposition to a syndrome specific pattern of different tumor types and sites, aggregating within families, to earlier onset of tumor development and to the occurrence of multiple primary tumors in affected individuals. The different tumors of a familial cancer syndrome share common causative genes and molecular pathways. A first mutation always represents a predisposing germline mutation that was either inherited, or arose from a new mutation in a parental germ cell. Local tumor manifestation requires at least one additional somatic “second hit” mutation. Since Knudson's “two hit hypothesis”, a model to explain multifocal primary tumors in hereditary retinoblastoma, a great number of family cancer syndromes have been recognized. This chapter does not claim completeness but rather aims to summarize and emphasize those conditions for which predisposing genes have been identified and respective tests can be offered. Since this chapter provides a comprehensive overview and synopsis on cancer family syndromes, some contents might be overlapping with previous, organ-specific chapters. The reader is advised to refer to these chapters for additional information on particular hereditary cancer conditions. Malformation syndromes, presenting with an increased tumor risk (Chapter 4 on Genetic Dysmorphic Syndromes), and hereditary solitary cancers are not the subject of this comprehensive chapter. The reader is also advised to refer to organ specific chapters for additional information on particular hereditary cancer conditions." @default.
- W1531597940 created "2016-06-24" @default.
- W1531597940 creator A5032089746 @default.
- W1531597940 date "2008-12-17" @default.
- W1531597940 modified "2023-10-18" @default.
- W1531597940 title "Family Cancer Syndromes" @default.
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