AN APC MUTATION ASSOCIATED WITH FAMILIAL COLORECTAL CANCER IN ASHKENAZI JEWS

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 SIMILAR 20 % of Ashkenazis with a...

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Hauptverfasser:	KINZLER, KENNETH, PETERSEN, GLORIA, LAKEN, STEVE, GRUBER, STEPHEN, VOGELSTEIN, BERT
Format:	Patent
Sprache:	eng ; fre
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ENZYMOLOGY INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS TESTING VINEGAR WINE
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Zusammenfassung:	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 SIMILAR 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 SIMILAR 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.