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Largest study on BRCA1/2 gene testing criteria clarifies other cancer links.

Women's Health Weekly

| December 02, 2004 | COPYRIGHT 2004 NewsRX. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan.  All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)Copyright

2004 DEC 2 - (NewsRx.com & NewsRx.net) -- The largest population study conducted on the risk of cancer in families that fulfill the criteria for BRCA1 and BRCA2 mutation testing has confirmed that breast and ovarian cancers are the major concerns for geneticists and doctors counseling families.

It has also verified that families eligible for BRCA1/2 mutation testing are at increased risk of pancreatic, prostate, and stomach cancers.

One important conclusion of the study was that, in families with at least one woman with breast cancer and another woman with ovarian cancer, most ovarian cancers are not attributable to BRCA1/2 mutations. Other, as yet unknown, non-BRCA1/2 related factors are likely to increase the risk of ovarian cancer in those families.

The study, published in the November 15, 2004, Annals of Oncology, used the 2002 update of the Swedish Family-Cancer Database, which contains everyone born in Sweden after 1931 with their biological parents - a total of 10.2 million people. Nearly 948,000 families with at least three generations were classified according to the clinical criteria proposed by the German Consortium for Hereditary Breast and Ovarian Cancer for testing of BRCA1/2 mutations.

The researchers - Justo Lorenzo Bermejo and Kari Hemminki - compared the cancer incidence in families eligible for BRCA1/2 mutation testing with the incidence in the general Swedish population. They used literature data to estimate the proportion of familial cancers unrelated to BRCA1/2 mutations (Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Annals of Oncology, November 15, 2004).

Bermejo, postdoctoral research fellow at the Department of Molecular Genetic Epidemiology at the German Cancer Research Center in Heidelberg, said, "The close to 100% histological ...

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