Molecular genetic evidence points to the retinoblastoma susceptibility gene (RB1) as important in tumorigenesis of retinoblastoma, osteosarcoma, breast cancer, soft tissue sarcoma, lung cancer, bladder cancer, and glioblastoma. Many of these cancers which have been shown to lose the expression of the RB1 gene, have been shown to segregate in families, either as single cancers or as part of a cluster of cancers cosegregating in a family. One possibility is that mutations of one allele of the RB1 gene result in predisposition to these cancers in those family members that inherit the mutation. It is possible that by analyzing mutations in the RB1 gene in tumor tissue from familial and sporadic forms of these different tumors and from constitutional tissues in affected family members, it may be possible to identify regions of the gene important in specifying tissue susceptibility and disease phenotype. It may also provide insight into the role of the RB1 gene in predisposition and tumorigenesis.

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Research Project (R01)
Project #
7R01CA050331-06
Application #
2093714
Study Section
Pathology B Study Section (PTHB)
Project Start
1990-04-01
Project End
1996-03-31
Budget Start
1994-08-01
Budget End
1996-03-31
Support Year
6
Fiscal Year
1994
Total Cost
Indirect Cost
Name
Boston University
Department
Genetics
Type
Schools of Medicine
DUNS #
604483045
City
Boston
State
MA
Country
United States
Zip Code
02118
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Whitaker, L L; Hansen, M F (1997) Induction of apoptosis in Mv1Lu cells by expression of competitive RB1 mutants. Oncogene 15:1069-77
Schubert, E L; Hansen, M F (1996) A previously unknown polymorphism located within the RB1 locus only present in Asian individuals. Hum Hered 46:118-20
Naumova, A; Hansen, M; Strong, L et al. (1994) Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma. Am J Hum Genet 54:274-81
Schubert, E L; Bischoff, F Z; Whitaker, L L et al. (1993) A method to isolate DNA from small archival tissue samples for p53 gene analysis. Hum Mutat 2:123-6
Hansen, M F (1991) Molecular genetic considerations in osteosarcoma. Clin Orthop Relat Res :237-46