Second Defective Gene Implicated in Ovarian Cancer

This finding was published in the September 18, 2002, issue of the Journal of the National Cancer Institute.

The investigators, from the University of Iowa Health Care (Iowa City, USA), used the protein truncation assay genetic screening test to show that 82% of the tumors from a group of 92 women previously shown to have defective BRCA1 also had dysfunctional BRCA2.

When the two genes function properly, they promote DNA repair by coding for proteins that protect against tumor development. However, when one or both genes are absent or do not function properly, they produce no protein or insufficient amounts of it.

"As recently as two to three years ago, people thought only five to 10% of ovarian cancer cases had disrupted BRCA1 or BRCA2 function, and most of those dysfunctional genes were thought to be inherited,” explained Dr. Richard Buller, professor of obstetrics and gynecology, and the study's principal investigator. "However, together the two studies show frequent BRCA2 and BRCA1 dysfunction in sporadic, or non-hereditary, ovarian cancers, not just in a portion of hereditary ovarian cancers.”

"With that level of dysfunction, therapies targeted toward the return of BRCA1 and BRCA2 function are very important for virtually every woman with ovarian or a related cancer,” Dr. Buller added.






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Univ. of Iowa Health Care Center