Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: The invention is directed to isolated coding sequences and to the protein sequences they code for. The coding sequence for BRCA1(omi4) gene is provided together with the protein sequence it codes for. The BRCA1(omi4) sequence is used for identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because the patient has an inherited causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with the isolated BRCA1(omi4) coding sequence and protein replacement therapy with the BRCA1(omi4) protein.

Abstract: Mutations resulting in stop codons in the BRCA1 gene are described. All of these mutations result in the formation of a truncated BRCA1 protein. Methods for identifying a sequence variation in a BRCA1 polynucleotide sequence are disclosed. The identification process includes allele specific sequence-based assays of known sequence variations. The methods can be used for efficient, and accurate detection of a mutation in a test BRCA1 gene sample for diagnostic and therapeutic purposes.

Abstract: The invention is directed to isolated coding sequences and to the protein sequences they code for. The coding sequence for BRCA1(omi4) gene is provided together with the protein sequence it codes for. The BRCA1(omi4) sequence is used for identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because the patient has an inherited causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with the isolated BRCA1(omi4) coding sequence and protein replacement therapy with the BRCA1(omi4) protein.