Cancer susceptibility mutations of brca2

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2311680

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.

On a découvert de nouvelles mutations du gène BCRA2. Ces mutations se situent aux numéros de nucléotide 2192, 3772, 5193, 5374, 6495 ou 6909 de la séquence nucléotidique publiée du gène BCRA2. Cette invention concerne également une technique permettant d'identifier une variation de séquence dans la séquence polynucléotidique de BCRA2. Cette technique d'identification comporte des bioanalyses de variations de séquence connues reposant sur une séquence spécifique d'allèle. Ces techniques permettent une détection efficace et précise d'une mutation dans un échantillon test de gène BCRA2.

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