We present an overview of the role of germline
copy number variations (CNVs) in cancer predisposition. CNVs represent a
significant source of genetic diversity, although the mechanisms by which they
influence cancer susceptibility still remain largely unknown. Approximately 100
highly penetrant germline mutant genes are now known to cause cancer predisposition
inherited in a Mendelian fashion; in this review, we show that nearly half of
these genes have also been observed as rare CNVs associated with cancer.
However, these highly penetrant alleles seem to account for less than 5% of all
familial cancers. We surmise that most of the genetic risk of cancer in the
general population must largely involve genes of low or moderate penetrance. In
the last 5 years, studies have demonstrated that although common low penetrant
CNVs are modest contributors to cancer individually, their combined impact on
cancer predisposition must be taken into account in estimating cancer risk.
Source: Germline copy number
variations and cancer predisposition. Krepischi AC, Pearson PL , Rosenberg
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