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BRCA1 breast cancer gene linked to deadly uterine cancer

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Actress Angelina Jolie made the tough decision to undergo a bilateral mastectomy because she is a carrier of the BRCA1 gene, which places a woman at increased for both breast and ovarian. Some women with the gene have undergone a bilateral oophorectomy (ovary removal) to decrease that cancer risk. A new study has found that women with the gene have a significantly increased risk of a rare but deadly form of uterine cancer. The findings were presented on March 24 at the Society of Gynecologic Oncology's annual meeting in Tampa, Florida, which runs from March 22 to March 25. The researchers are affiliated with the Memorial Sloan Kettering Cancer Center in New York.

The study group comprised 296 women who carried the BRCA1 gene. Among them, four cases of an aggressive uterine cancer occurred years after they had preventive oophorectomies; the rate is 26 times greater than expected. The investigators reviewed data from 1,200 women diagnosed with either BRCA1 and/or BRCA2 gene mutations since 1995 at Sloan Kettering. They were able to obtain data on 525 of these women for many years after they had undergone an oophorectomy but did not undergo a hysterectomy. None of the cancer deaths occurred among women with the BRCA2 mutation. Most uterine cancers are low-risk and usually cured with a hysterectomy; however, aggressive forms, which comprise only 10-15% of cases but more than 50% of uterine cancer deaths.

The researchers caution that their study results should not change the ways doctors currently practice; however, with the BRCA1 mutation should strongly consider having a hysterectomy together with a bilateral oophorectomy. Further research should provide additional information regarding the association.

Approximately 1 in 400 US women carry either the BRCA1 or BRCA2 gene; women of eastern European descent have an either higher rate. To prevent ovarian and breast cancer, these women are advised to be screened early and often for breast cancer, and to have their ovaries removed as soon as they have finished childbearing.