Bisgaard Marie Luise
Københavns Universitet, Institut for Medicinsk Biokemi og Genetik, Klinik for Medicinsk Genetik, Panum Instituttet 24.4, Blegdamsvej 3, DK-2200 København N.
Ugeskr Laeger. 2006 Jun 12;168(24):2341-4.
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.
