title: [Correlations between the patient's genotype and the course of the disease in hereditary cancer diseases].
abstract: 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.
authors.affiliation: Københavns Universitet, Institut for Medicinsk Biokemi og Genetik, Klinik for Medicinsk Genetik, Panum Instituttet 24.4, Blegdamsvej 3, DK-2200 København N. bisgaard@imbg.ku.dk
authors.forename: Marie Luise
authors.initials: ML
authors.lastname: Bisgaard
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*; D019683:Penetrance