Genetic variants in the BRCA2 gene are disclosed which are useful as diagnosis biomarkers.
1. A method for detecting a mutation in a BRCA2 allele comprising:
performing a nucleic acid-based assay to analyze a BRCA2 nucleic acid from a sample obtained from a human subject; and
detecting in said assay a mutation in said nucleic acid wherein said mutation results in the deletion of five nucleotides beginning at position 7,044 of a BRCA2 cDNA.
2. The method of claim 1 , wherein performing a nucleic acid-based assay comprises sequencing said nucleic acid.
3. A method of genotyping, comprising:
obtaining a tissue sample or cells from a human patient identified as, or suspected of, having an increased predisposition to breast and ovarian cancer; and
performing a nucleic acid-based assay to detect in said tissue sample or cells a deletion of five nucleotides in a BRCA2 allele beginning at the cDNA position of 7,044.
4. The method of claim 3 , wherein performing a nucleic acid-based assay comprises amplifying a nucleic acid comprising SEQ ID NO:73.
5. A method for detecting a mutation in a BRCA2 allele comprising:
performing a nucleic acid-based assay to analyze a nucleic acid from a tissue sample or cells obtained from a human subject; and
detecting in said assay a mutation resulting in a BRCA2 allele comprising SEQ ID NO:73.
6. The method of claim 5 wherein said tissue sample or cells were obtained from a patient identified as, or suspected of, having an increased predisposition to breast and ovarian cancer.
7. The method of claim 5 , wherein performing a nucleic acid-based assay comprises hybridizing a probe to said BRCA2 allele.