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Winter 2006
Contents
Looking Forward to "Looking Back, Living Forward"
PROSE: Research Provides Answers
BRCA1/2 Mutations Cause Many Ovarian Cancer Cases
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Tampa Study Finds BRCA1/2 Mutations Cause Many Ovarian Cancer Cases
by Sue Friedman
Identifying women with a BRCA mutation who are diagnosed with ovarian cancer may lead to more options for detecting and preventing cancer in their relatives. To better understand hereditary ovarian cancer, the Tampa Bay Ovarian Cancer Study (TBOCS) set out to determine the percentage of ovarian cancer patients with BRCA mutations, and what types of the disease are more common in women with these mutations.
The TBOCS found BRCA mutations may account for more cases of invasive ovarian cancer than previously thought. When researchers at H. Lee Moffi tt Cancer Center and gynecologic specialists from the Tampa Bay area genetically tested 209 women with invasive ovarian cancer, they found approximately 14% had a BRCA mutation. The majority of women with BRCA mutations had serous ovarian cancer. The study also found that some types of ovarian cancer—borderline or invasive mucinous tumors—were unlikely to be caused by a BRCA mutation.
Because genetic test results may impact screening and prevention for breast and ovarian cancer for patients and their relatives, and based on the relatively high percentage of ovarian cancer associated with BRCA mutations, it is prudent for women with invasive ovarian cancer to see a genetic counselor. (Medicare now covers the cost of genetic counseling and testing for eligible women with ovarian cancer.) Since a significant portion of women who
tested positive for a mutation had no family members with breast or ovarian cancer, family history alone may not accurately determine which ovarian cancer patients carry a BRCA mutation.
Symptoms of Ovarian Cancer
Please consult your doctor if you notice the following persistent symptoms:
- Pain in the pelvis, abdomen, or lower
back region - Persistent bloating, nausea, gas, loss of
appetite, or a feeling of fullness - Unexplained weight gain, weight loss,
or swelling of the abdomen - Increased frequency or urgency of
urination not caused by a urinary tract
infection - Changes in bowel movements
- Pain during intercourse
- Menstrual changes or postmenopausal
bleeding
These symptoms can be caused by conditions unrelated to cancer. If a cause cannot be found for your symptoms ask your doctor about transvaginal ultrasound, CA125 blood test, pelvic/rectal exam, and referral to a gynecologic-oncologist. These doctors specialize in the diagnosis and treatment of cancers of the reproductive system.
Although ovarian cancer has been termed the “silent killer,” a recent study showed that many women found to have ovarian cancer had some symptoms several months prior to diagnosis (see reference below).
References
T Pal, J Permuth-Wey, J Betts, J Krischer, J Fiorica, H Arango, J LaPolla, M Hoffman, M. Martino, K Wakeley, G Wilbanks, S Nicosia, A Cantor, R Sutphen. BRCA1 and BRCA2 Mutations Account For A Large Proportion Of Ovarian Carcinoma Cases. Cancer, November 2005; vol. 104, no. 12: p. 2807-2816.
L Smith, C Morris, S Yasmeen, A Parikh-Patel, R Cress, P Romano. Ovarian Cancer: Can We Make The Clinical Diagnosis Earlier? Cancer, August 2005; vol. 104, no. 7: p. 1398-1407.
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