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: A step-wise integrated process for identifying sequence variations in polynucleotide sequences is disclosed. The identification process is composed of three stages, including allele specific hybridization assays of known sequence variations (Stage I), sequence variation locating assays (Stage II), and direct sequencing (Stage III). The methods can be used for efficient and accurate detection of mutations in any test gene sample.

Abstract: 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.