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I1307K APC and hMLH1 mutations in a non‐Jewish family with hereditary non‐polyposis colorectal cancer
Author(s) -
Yuan Zhi Qiang,
Kasprzak Lidia,
Gordon Philip H,
Pinsky Leonard,
Foulkes William D
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1998.5440421.x
Subject(s) - colorectal cancer , medicine , genetics , polymorphism (computer science) , cancer , oncology , cancer research , genotype , biology , gene
We describe a French Canadian hereditary non‐polyposis colorectal cancer (HNPCC) kindred which carries a novel truncating mutation in hMLH1 . Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family. The I1307K polymorphism has previously only been identified in individuals of self‐reported Ashkenazi Jewish origins. In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer.