APC mutation associated with familial colorectal cancer in Ashke

Details APC mutation associated with familial colorectal cancer in Ashke APC mutation associated with familial colorectal cancer in Ashke

1997-01-31

1999-03-09

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 4351723, 435810, 536 231, 536 243, 536 2431, 536 2433, 436 64, 436813, 935 8, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2102, C07H 2104

Patent

active

058798900

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

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