Back to results
US 8,476,020 B1Granted
BRCA2 mutations and use thereof
AssigneeMyriad Genetics, Inc.
InventorsThomas Scholl, Brian E. Ward, Amie Deffenbaugh, Lynn Burbidge, Walter W. Noll
Life of this patent
Estimating the term…
Abstract
Genetic variants in the BRCA2 gene are disclosed which are useful as diagnosis biomarkers.
Claims7
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.
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.
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.
Dependencies are inferred from the claim text.