Abstract: The present invention provides various compositions and methods useful for the diagnosis and treatment of cancer, particularly in subjects having certain mutations in the ERCC3 gene, such as the R109X mutation. In some embodiments such methods involve administration of a class of DNA alkylating agents known as Illudins to the subject.

Abstract: The present invention relates to novel SNP biomarkers and to panels of biomarkers that may be used in assessing the risk that a patient carrying a BRCA2 mutation will develop breast cancer. It is based, at least in part, on the identification of a SNP located at 6p24 in the human genome which is associated with breast cancer risk in subjects carrying the BRCA2 mutation but not in the general population. In specific non-limiting embodiments, a SNP from the 6p24 region may be used alone or together with one or more breast cancer risk biomarker to evaluate the likelihood that a subject will develop breast cancer.

Abstract: Methods for identification of leukemia or a genetic predisposition to leukemia are provided that are particularly applicable to acute lymphoblastic leukemia (ALL). A novel heterozygous germline variant, c.547G>A (p.Gly183Ser) in the octapeptide domain of PAX5, is used to identify those individuals with an enhanced risk or predisposition to ALL.