Premium
Loss of DNA mismatch repair function and cancer predisposition in the mouse: Animal models for human hereditary nonpolyposis colorectal cancer
Author(s) -
Edelmann Lisa,
Edelmann Winfried
Publication year - 2004
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30021
Subject(s) - dna mismatch repair , carcinogenesis , colorectal cancer , cancer , dna repair , biology , germline mutation , genetics , mutation , germline , cancer research , gene , loss function , phenotype
Germline mutations in DNA mismatch repair genes underlie one of the most common hereditary cancer predisposition syndromes known in humans, hereditary nonpolyposis colorectal cancer (HNPCC). Defects of the DNA mismatch repair system are also prevalent in sporadic colorectal cancers. The generation of mice with targeted inactivating mutations in the mismatch repair genes has facilitated the in vivo study of how these genes function and how their individual loss contributes to tumorigenesis. Although there are notable limitations when using murine models to study the molecular basis of human cancer, there is remarkable similarity between the two species with respect to the contribution of individual members of the mismatch repair system to cancer susceptibility, and mouse mutants have greatly enhanced our understanding of the normal role of these genes in mutation avoidance and suppression of tumorigenesis. © 2004 Wiley‐Liss, Inc.