Tag Archives: Familial

Genetics Home Reference: familial hypercholesterolemia

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »

Familial risk of colorectal cancer: the genes only tell part of the story

Colorectal cancer is the third most common cancer in the world. Researchers currently assume that the disease is 35 percent hereditary. The main risk factors include a family history of the disease. In recent years, researchers have also identified around 100 tiny gene variations that are widespread in the population (single nucleotide polymorphisms – SNPs)… Read More »