New human breast and ovarian cancer gene described.

2004 JAN 1 - (NewsRx.com & NewsRx.net) -- A new human breast and ovarian cancer gene has been described by a team of researchers in the U.K. and Canada.

The gene, called EMSY, also characterizes a subset of breast cancer with poorer survival, which makes it a potentially important diagnostic tool, according to a report on the finding, published in the journal Cell.

The work by Luke Hughes-Davies and Margarida Ruas at the Cancer Research UK/Welcome Trust Institute, Cambridge, U.K., and David Huntsman at the Vancouver General Hospital, Canada, suggests that EMSY is involved in DNA repair. Furthermore, the team reports that EMSY seems to lead to ovarian and breast cancer by inactivating a gene involved in DNA repair. Unrepaired DNA mutations can then lead to disease.

Despite many years of study and significant progress in understanding the mechanisms of susceptibility to disease, ovarian and breast cancers remain an important cause of death among women. Two types of breast and ovarian cancers exist: inherited, where the patient belongs to a family with previous cases of the disease (also called familial cancer); or sporadic, where patients have no recorded family history of the disease. Sporadic cancers comprise the majority of the breast/ovarian cancers with 95% of the cases; the remaining 5% are familial cancers.

In familial breast and ovarian cancer, two major genes have been associated with susceptibility to disease: BRCA-1 and BRCA-2. Both genes seem to be involved in DNA repair and mutation in either of them confers a lifetime risk of cancer (60-85% to breast cancer and 15-40% of ovarian cancer).

In sporadic cases of breast/ovarian cancer, however, it has been extremely difficult to link mutations in these genes with disease. And although recent results seem to suggest that BRCA-1 can be found inactivated without being mutated in some ...