Wednesday, April 16, 2008

Healthy Women Faced with Breast Removal Option Based on Gene Testing

Women,who carry the gene mutation BRCA, may be faced with the decision of having mastectomy to avoid developing breast cancer. According to Dutch researchers, presenting at the 6th European Breast Cancer Conference in Berlin, Germany, women who carry the BRCA gene mutation have an estimated 85% lifetime risk of developing breast cancer. Surgical breast removal, or mastectomy, reportedly reduces that risk to less than 1%. Previous studies have shown that the risk of cancer could be reduced by 3%.

Two hundred fifty one women who carried the BRCA mutation were studied. Two types of BRCA mutation pre-dispose a woman to breast cancer, BRCA 1 and BRCA 2. Two thirds of the women in the study carried the BRCA 1 mutation, the rest BRCA 2. The women had either one, or both breasts removed. One woman developed cancer in the incompletely removed breast tissue that extends under the armpit, but is disease free six years later.

The benefits, according to Reinie Kaas, MD, from the surgical department of the Netherlands Cancer Institute, in Amsterdam: We can safely state that continued follow-up, which can be costly and stressful for the patient, is not warranted in patients who have had prophylactic mastectomy.” She emphasizes that “"healthcare services should not press women to make this choice simply to reduce costs."

It is estimated that half of women who carry the gene mutation have opted for mastectomy. Those who do not opt for surgery receive annual mammograms, perform monthly self-exams, see their doctor twice a year and undergo MRI’s for surveillance. Even with the increased screening, most tumors develop so fast that 25% -35% of women already have tumors that are more than 2cm. in diameter.

The surgery involves removal of breast tissue, while sparing the overlying skin. Breast impantation is performed immediately, making the procedure at least cosmetically appealing.

The decision for gene testing alone is bound to be a difficult one for many women, but in reality, knowledge of your risk factors is only the beginning. If you do have the gene variant that puts you at high risk, you will be faced with another difficult decision.

If you have a first-degree relative who has had breast cancer, you are at greater risk. Other factors that increase your risk, according to the National Cancer Institute, include:

Age—The risk of breast and ovarian cancers increases with age. Most breast and ovarian cancers occur in women over the age of 50. Women with an altered BRCA1 or BRCA2 gene often develop breast or ovarian cancer before age 50.

History — Women who have already had breast cancer are at increased risk of developing breast cancer again, or of developing ovarian cancer. Women who have had colon cancer also have an increased risk of developing ovarian cancer.

Hormonal Influences — Estrogen is naturally produced by the body and stimulates the normal growth of breast tissue. It is suspected that excess estrogen may contribute to breast cancer risk because of its natural role in stimulating breast cell growth. Women who had their first menstrual period before the age of 12 or experienced menopause after age 55 have a slightly increased risk of breast cancer, as do women who had their first child after age 30. Each of these factors increases the amount of time a woman’s body is exposed to estrogen. Removal of a woman’s ovaries, which produce estrogen, reduces the risk of breast cancer.

Birth Control Pills (Oral Contraceptives) - Most studies show a slight increase or no change in breast cancer risk in women taking birth control pills. Some studies suggest that a woman who has taken birth control pills for a long period of time, and began taking them at an early age or before her first pregnancy, has a small increase in her risk for developing breast cancer. In contrast, taking birth control pills may decrease a woman’s risk of ovarian cancer.

Hormone Replacement Therapy - A woman’s risk for developing breast cancer may be increased by hormone replacement therapy (HRT), especially when it is used for a long period of time. Doctors may prescribe HRT to reduce the discomfort from symptoms of menopause, such as hot flashes. Some evidence suggests that women who use HRT after menopause may also have a slightly increased risk of developing ovarian cancer. HRT may have positive health effects as well, such as lowering a woman’s risk of heart disease and osteoporosis. These protective effects diminish after a woman discontinues therapy. The risks and benefits of HRT should be carefully considered by a woman and her health care provider.

Dietary Fat - Although early studies suggested a possible association between a high-fat diet and increased breast cancer risk, more recent studies have been inconclusive. It is not yet known whether a diet low in fat will lower breast cancer risk.

Physical Activity - Studies of the relationship between physical activity and breast cancer have had mixed results. However, some studies suggest that regular exercise, particularly in women age 40 and younger, may decrease breast cancer risk.

Alcohol - Alcohol use may increase breast cancer risk, but no biological mechanism for the relationship between alcohol and breast cancer risk has been established.

Environmental Factors - Exposure of the breast to ionizing radiation, such as radiation therapy for Hodgkin’s disease or other disorders, is associated with an increased risk of breast cancer, especially when the exposure occurred at a young age. Evidence for the effect of occupational, environmental, or chemical exposures on breast cancer risk is limited. For example, there is some evidence to suggest that organochlorine residues in the environment, such as those from insecticides, might be associated with an increase in breast cancer risk. However, the significance of this evidence has been debated. Scientific research is currently in progress to study the effects of various environmental factors on breast cancer risk.

If you are considering genetic testing, it’s recommended that you speak with a professional genetic testing counselor, doctor or other health care worker. To find a professional, you can contact the National Cancer Institute’s Cancer Information Service (CIS) at 1–800–4–CANCER (1–800–422–6237).

6th European Breast Cancer Conference (EBCC): Abstracts 18 and 109. Presented April 16, 2008.

Related: - The Deepest Cut. The author of a new memoir talks about her decision to have her breasts removed to lower her cancer risk, and her desire to be a mother.