Gene Logic, Inc.

Oncormed, Inc.

Antonette C Allen

Patricia D Murphy

Sheri J Olson

Bin Zeng

Christopher P Alvares

Brenda S Critz

Denise B Schelter

Denise Bernadette Thurber

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, BRCA1, and BRCA1and 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.

Coding sequences of the human BRCA1 gene

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.sup.(omi1), BRCA1.sup.(omi2), and BRCA1.sup.(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 BRCA.sup.(omi) proteins or their functional equivalent.

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.

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.

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Severn, MD, United States of America

Antonette C Allen