Cancer susceptibility mutations of BRCA2

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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536 2431, 536 2433, C12Q 168, C07H 2104

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active

060513799

ABSTRACT:
New mutations have been found in the BRCA2 gene. The mutations are located at nucleotide numbers 2192, 3772, 5193, 5374, 6495 or 6909 of the published nucleotide sequence of BRCA2 gene. A process for identifying a sequence variation in a BRCA2 polynucleotide sequence is disclosed. The identification process includes allele specific sequence-based assays of known sequence variations. The methods can be used for efficient, and accurate detection of a mutation in a test BRCA2 gene sample.

REFERENCES:
patent: 4683195 (1987-07-01), Mullis et al.
Panayiotiais P., et al. British Journal of Haematology 97:844-847 (1997).
Tavitigian et al. Nature Genetics 12: 333-337 (1996).

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