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BRIP1 variant associated with ovarian cancer

Nature Genetics

2011년11월3일

A genetic variant associated with ovarian cancer is reported this week in Nature Genetics.

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Thorunn Rafnar, Kari Stefansson and colleagues report a genome-wide association analysis that utilizes the entire genome sequences of 457 Icelanders along with information on Icelandic genealogy to test sequence variants for association with ovarian cancer in 41,675 Icelanders. They identify an associated frameshift variant in BRIP1 which encodes a BRCA1-interacting protein. The mutation was also associated with increased risk of cancer in general.

doi: 10.1038/ng.955

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