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: Methods for identifying functional allele profiles of a given gene are disclosed. Functional allele profiles comprise the commonly occurring alleles in a population, and the relative frequencies at which such alleles of a given gene occur. Functional allele profiles are useful in treatment and diagnosis of diseases, for genetic and pharmacogenetic applications and for evaluating the degree to which the gene(s) are under selective pressure.

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: This invention is directed to the isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequence of the BRCA1 gene. The three coding sequences, BRCA1(omi1), BRCA1(omi2), and BRCA1(omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences. This invention is further related to protein therapy with BRCA1(omi) proteins or their functional equivalent.

Abstract: New mutations have been found in the BRCA1 gene. The mutations are located at nucleotide numbers 421-2, 815, 903, 926, 1506, 2034, 2428, 3888, 3904, 4164, 4643, 5053, 5150, 5210, or 5396+40 of the gene sequence of BRCA1. A process for identifying a sequence variation in a BRCA1 polynucleotide sequence is 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.

Abstract: New mutations have been found in the BRCA2 gene. The mutations are located at nucleotide numbers 2192, 3772, 5193, 5374, 6495 or 6909 of the published nucleotide sequence of BRCA2 gene. A process for identifying a sequence variation in a BRCA2 polynucleotide sequence is 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 BRCA2 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.

Abstract: This invention is directed to three coding sequences of the BRCA1 gene. The three coding sequences, BRCA1.sup.(omi1), BRCA1.sup.(omi2) and BRCA1.sup.(omi3) as well as their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences.

Abstract: A consensus DNA sequence has been determined for the BRCA1 gene. As has been seven polymorphic sites and their rates of occurrence in normal BRCA1 genes. The consensus gene BRCA1.sup.(omi) and the seven 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, determine the presence of a normal gene, and of mutations, and to classify tumors.

Abstract: The present invention relates to a method of determining human hereditary disease risk factors, a method of determining hereditary cancer patterns presenting in cancer family histories, and a method of determining whether a cancer family history represents a hereditary pattern.