Research highlight

Genetic variants associated with hormone-related cancers

Nature Genetics

March 28, 2013

A near doubling of the number of genomic regions associated with breast, ovarian, and prostate cancer is reported in five papers published in Nature Genetics and two papers published in Nature Communications. As part of the Collaborative Oncological Gene-environment Study (COGS), this represents a milestone in our understanding of the genetic basis of these three hormone-related cancers, which are diagnosed each year in over 2.5 million people worldwide, with about a one-third mortality rate.

In the three primary papers at Nature Genetics, Douglas Easton, Rosalind Eeles, and Paul Pharoah and their respective colleagues report on genomic regions newly associated with these cancers. Together with six other coordinated papers in another three journals, the COGS authors collectively identified 74 new susceptibility loci. Easton, Eeles, Pharoah and colleagues each start with large-scale genome-wide association studies, followed by replication in additional large cohorts using a custom genotyping array that included promising genetic variants selected from each cancer-specific study. This cross study approach also allowed for the identification of shared susceptibility regions, which suggest a shared genetic basis and mechanism between these three cancers.

Montserrat Garcia-Closas and colleagues report four genomic regions associated with a common hormone-related subtype of breast cancer that represents 20-30% of all diagnoses. Stig Bojesen and colleagues report a detailed genetic and functional characterization of variants at one genomic region associated with the length of telomeres, found at the end of chromosomes, as well as susceptibility to multiple cancers. In one of two commentaries appearing in Nature Genetics, Hilary Burton and colleagues provide perspectives on public health implications and the potential for risk prediction based on these new genetic findings.

Lastly, in Nature Communications Celeste Leigh Pearce and colleagues report that genetic variants in a specific transcription factor are associated with risk of developing two subtypes of ovarian cancer; in a second paper, Jennifer Permuth-Wey and colleagues report a new susceptibility locus for epithelial ovarian cancer.

doi: 10.1038/ng.2563

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