Genome rearrangement and stability
1995
While questions surrounding genome rearrangement and stability have been discussed for many years, the years since 1991 have been particularly exciting in the field. This is because of two basic discoveries. First was the discovery of the trinucleotide-repeat expansion diseases. In these diseases the inherited mutant allele is a trinucleotide repeat that has undergone expansion to reach an abnormal size that is responsible for the disease state. Second is the observation that a subset of many types of tumors have a particular genetic instability in which simple repeat sequences are unstable. This observation ultimately led to the discovery that inherited defects in mismatch repair genes are the cause of hereditary nonpolyposis colorectal carcinoma, one of the most common inherited cancer-susceptibility syndromes. Because of the present excitement about these subjects, a book that discusses some of the underlying questions in these areas is timely.
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