An apc mutation associated with familial colorectal cancer...

Details An apc mutation associated with familial colorectal cancer... An apc mutation associated with familial colorectal cancer...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12N 15/12 (2006.01) G01N 33/574 (2006.01)

Patent

CA 2278781

During routine screening of a patient with a family history of colorectal cancer for truncating APC mutations, a novel missence mutation was identified. Upon further evaluation, it was found that 6 % of Ashkenazi Jews carry this mutation, and that it was present in 20 % of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.

Lors du dépistage systématique de mutations du gène APC entraînant une troncature de celui-ci, chez un patient présentant des antécédents familiaux de cancer colorectal, une nouvelle mutation faux-sens a été identifiée. Au cours d'une évaluation plus poussée, il a été découvert que 6 % des juifs ashkénazes présentent cette mutation, et qu'elle est présente chez ?20 % des ashkénazes ayant des antécédents familiaux de cancer colorectal. L'invention concerne des sondes, procédés et kits pour identifier des individus présentant cette mutation faux-sens.

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