Cooperative tumorigenic effects of germline mutations in Rb and p53

BO Williams, L Remington, DM Albert, S Mukai… - Nature …, 1994 - nature.com
BO Williams, L Remington, DM Albert, S Mukai, RT Bronson, T Jacks
Nature genetics, 1994nature.com
The tumour suppressor genes Rb and p53 are mutated in several types of human cancer,
and many tumour types carry mutations in both genes. To study how these genes normally
function, we and others have created mouse strains with Rb and p53 mutations. Here we
describe the phenotypic effects of combined germline mutations in these two tumour
suppressor genes. Mice mutant for both genes have reduced viability and exhibit novel
pathology including pinealoblastomas, islet cell tumours, bronchial epithelial hyperplasia …
Abstract
The tumour suppressor genes Rb and p53 are mutated in several types of human cancer, and many tumour types carry mutations in both genes. To study how these genes normally function, we and others have created mouse strains with Rb and p53 mutations. Here we describe the phenotypic effects of combined germline mutations in these two tumour suppressor genes. Mice mutant for both genes have reduced viability and exhibit novel pathology including pinealoblastomas, islet cell tumours, bronchial epithelial hyperplasia and retinal dysplasia. These data indicate that mutations in Rb and p53 can cooperate in the transformation of certain cell types in the mouse.
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