A purified and isolated DNA sequence and the encoded mammary-specific
protein, mammaglobin, are disclosed. Also disclosed are methods
for the detecting breast cancer based upon the overexpression and
secretion of mammaglobin by breast cancer cells. The methods detect
and/or quantitate the presence of mammaglobin or the mRNA encoding
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.
cDNA sequences derived from four novel genes associated with breast
cancer are provided. In over about 60% of the cancer cell lines
tested, RNA hybridizing with the cDNAs were substantially more abundant
than in normal cells. Most of the cell lines also showed a duplication
of the corresponding gene, which probably contributed to the increased
level of RNA in the cell. However, for each of the four genes, there
were some cell lines which had RNA overabundance without gene duplication.
This suggests that the gene product is sufficiently important to
the cancer process that cells will use several alternative mechanisms
to achieve increased expression. The polynucleotides, polypeptides,
and antibodies provided by this invention are expected to be particularly
useful in diagnosis and treatment of breast cancer. Also provided
is a general method for obtaining cDNA with similar properties that
may be associated with breast cancer and other malignancies.
The invention provides a pharmaceutical composition containing
a somatostatin analogue, and its use in the treatment of breast
cancer. The pharmaceutical composition preferably contains lactic
acid in addition to the somatostatin analogue and is better tolerated
when administered by injection.