Mutations can be grouped into two main categories based on where they occur: somatic mutations and germ-line mutations. Somatic mutations take place in non-reproductive cells. Many kinds of ...
A germ-line mutation looks like a red ball in a sea of white balls—difficult, but not impossible, to spot; a somatic mutation is gray, and more easily blends in. “In genetics, it can be hard ...
The result is a state called “somatic mosaicism,” in which two or more groups of cells in the same body possess different genetic compositions. In recent years, the discovery of conditions such as ...
Investigations. Immunohistochemical analysis for DNA mismatch repair proteins, germline mutation analysis of MSH2. Diagnosis. Lynch syndrome with a heterozygous germline mutation in MSH2.