[Correlations between the patient's genotype and the course of the disease in hereditary cancer diseases].
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.
Bisgaard
Marie Luise
ML
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
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