SUSCEPTIBILITY MUTATION 6495delGC OF BRCA2

摘要

A new mutation has been found in the BRCA2 gene. The mutation is a twobase pair deletion of nucleotide 6495 of the published cDNA sequence of BRCA2. A process for identifying a sequence variation in a BRCA2 polynucleotide sequence is disclosed. The identification process includes allele specific sequence-based techniques assays of known sequence variations. The methods can be used for efficient and accurate detection of a mutation in a test BRCA2 gene sample.