 Semaphorin gene: Semaphorin Y |
| What is claimed is: 1. An isolated nucleic acid molecule comprising a polynucleotide having a ... |
|
| Non-maltogenic exoamylases and their use in retarding retrogradation of starch |
| What is claimed is: 1. A process for making a bakery product comprising: (a) adding to a starch ... |
|
| Attenuated equine herpesvirus |
| The first objective of the present invention is achieved by an Equine herpesvirus (EHV) mutant, ... |
|
| Conserved yeast nucleic acid sequences |
| OF THE INVENTION The present invention advantageously provides both probes and primers which bind ... |
|
| Compositions and methods for the therapy and diagnosis of prostate cancer |
| Briefly stated, the present invention provides compositions and methods for the diagnosis and ... |
|
| Compositions structured with at least one polymer and methods of using the same |
| What is claimed is: 1. A structured cosmetic composition comprising: (i) at least one continuous ... |
|
| Therapeutic uses of bactericidal/permeability-increasing protein dimer products |
| The present invention provides significant improvements in therapeutic uses of BPI protein products ... |
|
| Synthesis of soluble .beta.-sheet forming peptides |
| OF THE INVENTION An intricate interplay exists between peptide .beta.-sheet formation, self-... |
|
| Flavivirus antigen |
| What is claimed is: 1. An antigen consisting essentially of an amino acid sequence represented by ... |
|
|
Susceptibility mutation for breast and ovarian cancer
| Details |
Inventors: White, Marga B.; Sadzewicz, Lisa K.;
Assignee: OncorMed, Inc. (Gaithersburg, MD)
Primary Examiner: Jones; W. Gary
Assistant Examiner: Rees; Dianne
Attorney, Agent or Firm: Halluin; Albert P., Gallegos; R. Thomas Howrey & Simon
A new mutation has been found in the BRCA1 gene. The mutation is a two base pair deletion at nucleotides 3888 and 3889 of the published cDNA sequence of BRCA1 (GENBANK ACCESSION NO:U14680). The invention provides a method for diagnosing persons at risk of developing breast or ovarian cancer. The invention also provides a further tool with which to characterize tumors. |
|
DETAILED DESCRIPTION OF THE PREFERRED EMBODIMENTS The present invention is based on the discovery of a two base pair deletion of nucleotides 3888 and 3889 of the published BRCA1 cDNA sequence.
This deletion mutation is referred to as 3888delGA.
The BRCA1 gene is a tumor suppressor gene associated with breast and ovarian cancer.
The 3888delGA deletion interrupts the normal reading frame of the BRCA1 transcript, resulting in the appearance of an in-frame terminator (TAG) at codon position 1265.
This mutation is, therefore, predicted to result in a truncated, and most likely, non-functional protein.
Useful DNA molecules according to the invention are those which will specifically hybridize to BRCA1 sequences in the region of the 3888delGA mutation.
Typically these are at least about 20 nucleotides in length and have the nucleotide sequence corresponding to the region of the 3888delGA mutation at nucleotides 3888 and 3889 of the published BRCA1 cDNA sequence (GenBank Accession No.
U15595).
Such molecules can be labeled, according to any technique known in the art, such as with radiolabels, fluorescent labels, enzymatic labels, sequence tags, etc.
According to another aspect of the invention, the DNA molecules contain the 3888delGA mutation.
Such molecules can be used as allele-specific oligonucleotide probes to track a particular mutation through a family.
Body samples can be tested to determine whether the BRCA1 gene contains the 3888delGA mutation.
Suitable body samples for testing include those comprising DNA, RNA or protein obtained from biopsies, blood, prenatal, or embryonic tissues, for example.
In one embodiment of the invention a pair of isolated oligonucleotide primers are provided.
BRCA1-11K-F: 5'-GCA AAA GCG TCC AGA AAG AG-3'(SEQ ID NO:1), and BRCA1-11K-R: 5'-AGT CTT CCA ATT CAC TGC AC-3'(SEQ ID NO:2).
The designation BRCA1-11K referres to a sequence in the BRCA1 gene, Exon 11, section K.
F and R refer to forward and reverse.
The oligonucleotide primers are useful in diagnosis of a subject at risk of having breast or ovarian cancer, and also useful for characterizing a tumor
|
|
Drugs 
