Abstract: Described are biomarkers for neoplastic disease progression. Specifically, provided are methods of determining neoplastic disease progression by determining the presence of retrotransposon insertion.

Abstract: The disclosed subject matter is based on the discovery that a mutation (a single nucleotide polymorphism or “SNP”) in the gene encoding Abraxas (also referred to as ABRA1, CCDC98 or FAM175A), is associated with susceptibility to cancer, e.g., breast cancer. In particular, the disclosed subject matter is based on the identification of a heterozygous alteration in the Abraxas gene that is associated with breast cancer and specifically correlated with familial cancer. Accordingly, the SNP disclosed herein is useful for diagnosing, prognosing, screening for, and evaluating predisposition to cancer in humans. The disclosed subject matter also provides nucleic acid molecules containing the SNP, methods and reagents for the detection of the SNP, and assays or kits for detection of the SNP.