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He hopes that physicians add this gene to the list of lupus-associated genes, "so if they see a mutation like these, even a heterozygous mutation, they will investigate further."

Hence, this work suggests that a single heterozygous mutation, in one of a large number of genes, is an easy way for cells to acquire a “super-mutator” power that allows cancer to progress faster.

This insight into the relative frequency of heterozygous and homozygous mutations associated with genetic instability in yeast might have relevance for understanding the mechanisms by which cancer cells acquire genetic instability.

Moreover, the proportion of genes in which her chromosome pairs harbored different variants—so-called heterozygous alleles—was close to 50% across all chromosomes, suggesting the maternal and paternal chromosomes came directly from different groups.

The individuals, being heterozygous for these variants, lacked the disease phenotype.