Sequenom Announces Identification of Second Breast Cancer Gene

Sequenom has announced the discovery of genetic variations in the gene encoding the nuclear mitotic apparatus protein (NuMA) that affect breast cancer risk.

Published today in the online early edition of the Proceedings of the National Academy of Sciences (PNAS), the study titled, "Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility," reports that individuals with a coding variation in the NuMA gene have more than a two-fold higher risk of developing breast cancer than those without it. This risk is increased to more than four-fold for cases with a family history of cancer.

The company conducted a genome-wide, large-scale association study with a set of over 500 Caucasian cases and controls and 25,000 single nucleotide polymorphisms (SNPs). The initial association study was subsequently tested in two large, independent replication studies that were conducted in order to validate the initial findings.