Edward N Fox

US Patent:

20130157294, Jun 20, 2013

Filed:

Oct 17, 2012

Appl. No.:

13/654243

Inventors:

Oregon Health and Science University - Portland OR, US
Edward A. Fox - Boston MA, US
Cynthia Timmers - Columbus OH, US
Markus Grompe - Portland OR, US

Assignee:

Oregon Health and Science University - Portland OR
Dana-Farber Cancer Institute, Inc. - Boston MA

International Classification:

G01N 33/68
C12Q 1/02

US Classification:

435 792, 435 71, 435 29

Abstract:

Methods and compositions for the diagnosis of cancer susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been identified, and probes and primers are provided for screening patients in genetic-based tests and for diagnosing Fanconi Anemia and cancer. The FANCD2 gene can be targeted in vivo for preparing experimental mouse models for use in screening new therapeutic agents for treating conditions involving defective DNA repair. The FANCD2 polypeptide has been sequenced and has been shown to exist in two isoforms identified as FANCD2-S and the monoubiquinated FANCD-L form. Antibodies including polyclonal and monoclonal antibodies have been prepared that distinguish the two isoforms and have been used in diagnostic tests to determine whether a subject has an intact Fanconi Anemia/BRCA pathway.