Sammenhaenge mellem patientens genotype og sygdommens forlöb ved arvelige kraeftsygdomme
Engelsk titel: Correlations between the patient's genotype and the course of the disease in hereditary cancer diseases
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Författare:
Bisgaard ML
Email: bisgaard@imbg.ku.dk
Språk: Dan
Antal referenser: 10
Dokumenttyp:
Artikel
UI-nummer: 06061412
Sammanfattning
The majority of hereditary cancers demonstrate extended variation of phenotype, not only between families, but also within a particular family, who supposedly have inherited the same pathogenic mutation. The present paper reviews genotype-phenotype correlations with examples mainly from the two largest hereditary cancer groups, namely hereditary colorectal cancer and hereditary breast (and ovarian) cancer. It is concluded that knowledge about genotype-phenotype correlations is essential in the cancer genetic clinic; otherwise, the patient tends to base decisions on personal experience, not realising that the course of disease might be different in other family members.