Oncormed, Inc.

Gene Logic, Inc.

Bin Zeng

Patricia D Murphy

Sheri J Olson

Christopher P Alvares

Antonette C Allen

Brenda S Critz

Denise B Schelter

Denise Bernadette Thurber

Marga Belle White

Tammy Lawrence

Antonette Preisinger Allen

Jennifer Lee Lescallett

Tracy Staton Angelly

Lisa K Sadzewicz

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.

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.

Cancer susceptibility mutations of BRCA1

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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Rockville, MD, United States of America

Bin Zeng