Chromosome 13-linked breast cancer susceptibility gene

Details Chromosome 13-linked breast cancer susceptibility gene Chromosome 13-linked breast cancer susceptibility gene

1996-04-29

1998-11-17

Chambers, Jasemine C.

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Recombinant dna technique included in method of making a...

4353201, 435375, 4351723, 530828, 935 62, 935 70, 935 71, 935 34, C12N 1563, C12N 1579, C12N 1509, C12N 510

Patent

active

058374922

ABSTRACT:
The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA2 gene, including gene therapy, protein replacement therapy and protein mimetics. The invention further relates to the screening of drugs for cancer therapy. Finally, the invention relates to the screening of the BRCA2 gene for mutations, which are useful for diagnosing the predisposition to breast cancer.

REFERENCES:
Wooster, R. et al. (1995). "Identification of the breast cancer susceptiblity gene BRCA2", Nature 378:789-792.
Wooster, R. et al. (1994). "Localization of a Breast Cancer Susceptibility Gene, BRCA2, to Chromosome 13q12-13", Science 265:2088-2090.
Thorlacius, S. et al. (1995). "Linkage to BRCA2 region in hereditary male breast cancer", The Lancet 346:544-545.
Schutte, M. et al. (1995). "Identification by representational differenece analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region", Proc. Natl. Acad. Sci. USA 92:5950-5954.
Lundberg, C. et al. (1987). "Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13", Proc. Natl. Acad. Sci. USA 84:2372-2376.
Neuhausen, S. et al. (1996). "Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer", Nature Genetics 13:126-128.
Phelan, C.M. et al. (1996). "Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families", Nature Genetics 13:120-122.
Couch, F.J. et al. (1996). "BRCA2 germline mutations in male breast cancer cases and breast cancer families", Nature Genetics 13:123-125.
Tavtigian, S.V. et al. (1996). "The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds", Nature Genentics 12:333-337.
Kim, T.M. et al. (1994). "Loss of Heterozygosity on Chromosome 13 Is Common Only in the Biologically More Aggressive Subtypes of Ovarian Epithelial Tumors and Is Associated with Normal Retinoblastoma Gene Experssion", Cancer Research 54:605-609.
Collins, N. et al. (1995). "Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13", Oncogene 10:1673-1675.
Cleton-Jansen, A-M. et al. (1995). "Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13", Br. J. Cancer 72:1241-1244.
Kerangueven, F. et al. (1995). "Patterns of Loss of Heterozygosity at Loci From Chromosome Arm 13q Suggest a Possible Involvement of BRCA2 in Sporadic Breast Tumours", Genes, Chromosomes & Cancer 13:291-294.

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