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 20 % of Ashkenazis with a family h...

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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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Beschreibung
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 20 % of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.