BRCA 1&2 testing will be provided upon the recommendation of a medical geneticist so long as the following risk factors exist

BRCA 1&2 testing will be provided upon the recommendation of a medical geneticist, so long as the following risk factors exist:

Family History: (especially first-degree relatives) of breast and/or ovarian cancer

Early age at breast cancer Dx

< 45 yrs. of age and at least one first-degree relative with breast CA

< 35 yrs. of age (6.2%)

Diagnosis of ovarian cancer

The patient is of Ashkenazi (or European) Jewish ethnicity

Malone, Daling, Thompson JAMA 1998, 279: 922

Journal of Clinical Oncology 1999;17:1050-1056.

Note, however a study involving 411 cancer-free women with one or more family members with 1 of 2 genes linked to breast and ovarian cancers. It found that 48% of the women took the opportunity to find out if they carried the genetic mutation. When the tests revealed they had a mutation, 51% chose a double mastectomy and 64% opted to have their ovaries removed. Experts estimate that 1 in 400 women have a mutation in BRCA1 and/or BRCA2. Those women can have an 85% risk of developing breast cancer and a 65% chance of getting ovarian cancer.

"A lot of women with gene mutations feel their breasts are time bombs... . That's partly cultural and it also depends on the attitude of doctors said the study's lead researcher, Dr. Jan Klijn at Erasmus U. in Rotterdam, the Netherlands. Of the 70 women who had their breasts removed, none developed cancer in the 6 years that followed. An earlier study by Hartmann at the Mayo Clinic showed the surgery slashed the risk of breast cancer by 90%. Dr. Henry Lynch (Creighton U., Omaha, Neb., said the demand for pre-emptive mastectomy has increased over the last decade in the US.

"The knife has never been the real answer to the treatment of breast cancer. The big advances in prevention will not come from chopping people's breasts off. In the long term, I'd put my money on hormonal treatment." Studies of preventive drug treatment may show that women can protect themselves against breast cancer and still keep their breasts. While more women may opt for mastectomy in the near future, preventive hormonal treatments now being developed may be a better option in the long term. Dr. James Mackay, a cancer genetics expert at the Cancer Research Campaign in Addenbrokes Hospital in Cambridge, UK.

A 40-Year-Old Woman With a Strong Family Hx of Breast Cancer, 1 Year Later Erin E. Hartman, MS; Richard A. Parker, MD

In 2/99, Judy Garber, MD, discussed a 40-year-old woman whose grandmother, mother, and sister had breast cancer.1 Both the woman's mother and sister died of the disease. Mrs T, the patient, practiced breast self-examination and had yearly mammography starting at age 23 years. She was considering genetic testing and tamoxifen therapy. Dr Garber discussed established risk factors for breast cancer, such as reproductive factors, lifestyle factors, and family history. She explained that available information on women's risk of breast cancer has limitations and that estimating breast cancer risk for individual patients is challenging. Dr Garber detailed the decision process for whether a patient should consider testing for the presence of BRCA1 or BRCA2 genes. She also described medical management for patients with strong family history of breast cancer, such as prophylactic mastectomy and tamoxifen.

MRS T, THE PATIENT

I feel great. I just had my mammogram last week, and it was normal. I started to take tamoxifen and have not had any side effects. I expect to take this for 5 years. Hopefully by then there will be something else I can take to help prevent breast cancer. I am still against the idea of gene testing for myself. If it came back positive, I would have to consider a prophylactic bilateral mastectomy—I definitely do not want to think about that now. My daughter is 4, and I hope she will not have to face any of these problems in her future.

Author/Article Information From the Division of General Medicine and Primary Care, Beth Israel Deaconess Medical Center, 330 Brookline Ave, LY318, Boston, MA 02215.

1. Garber J. A 40-year-old woman with a strong family history of breast cancer. JAMA. 1999;282:1953-1960.