Oncormed, Inc.

Gene Logic, Inc.

Tammy Lawrence

Sheri J Olson

Marga Belle White

Denise Bernadette Thurber

Antonette Preisinger Allen

Jennifer Lee Lescallett

Tracy Staton Angelly

Patricia D Murphy

Bin Zeng

Lisa K Sadzewicz

Mark B Rabin

Antonette C P Allen

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.

Coding sequence haplotype of the human BRCA1 gene

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

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.

Cancer susceptibility mutations of BRCA2

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Laurel, MD, United States of America

Tammy Lawrence