By Kari Danziger, MS, CGC

Reviewed by Beth Crawford, MS, CGC
Last updated September 15, 2000

Breast Cancer Screening Overview

As with other cancers, if you discover a breast cancer in its early stages, you have a better chance of treating and stopping the disease before it spreads to other parts of the body. Thus, the most important thing you can do to prevent breast cancer is to undergo vigilant screening. There are several procedures that you and your physician can use to screen for early signs of breast cancer.

Breast self-examination. By regularly examining your own breasts, you can detect any changes early on and bring them to the attention of your health care provider. Although researchers are uncertain how effective this method is for detecting breast cancer, they believe it may offer some benefit — especially for those who may be at increased risk for the disease.

Clinical breast examination. By examining a woman's breasts in a clinical setting, doctors can detect changes or suspicious masses that may be a sign of early-stage cancer. Healthcare providers have received training in breast examination that is likely to make them more effective at detecting cancerous lumps. The sensitivity of clinical breast exam is affected by the stage and size of the tumor, and the experience of the examiner. Overall, studies have shown that approximately 63 percent of breast cancers may be detected by clinical breast exam alone.

Mammogram. By using low-level radiation X-rays, doctors are able to look for evidence of cancer in women who are not yet displaying any symptoms of the disease. Although the benefit of mammograms for women at high risk under the age of 50 has not been clearly established (since most studies on this topic have focused on women ages 50 through 69), many experts believe that the benefit of early detection in young women at risk for hereditary breast cancer likely outweighs the risks.

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Breast Cancer Screening Guidelines

The following table summarizes screening guidelines proposed by the Cancer Genetics Studies Consortium for women who have inherited a high risk for breast cancer:

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Ovarian Cancer Screening Overview

The current ovarian cancer screening methods are less than perfect. Sometimes they fail to detect cancer when it's present, and other times they wrongly identify something harmless as cancer — causing unnecessary anxiety for patients and requiring expensive and unpleasant invasive follow-up (such as biopsies) to clarify the results.

The most common form of ovarian cancer screening is the pelvic exam that women receive during their annual check up. Although the pelvic exam can occasionally detect ovarian cancer, it often misses cancers or only detects a cancer when it is quite advanced and harder to treat. Despite their limitations in detecting ovarian cancer, pelvic exams are an important part of a woman's annual check up because they allow the doctor to screen for cervical cancer.

In addition to pelvic exams, doctors recommend that women who have inherited a high risk of ovarian cancer be screened regularly for ovarian cancer, despite the limitations of the screening techniques. This recommendation stems from the fact that ovarian cancer often fails to produce symptoms until it has spread to other parts of the body and is then more difficult to treat. The two screening methods are:

Transvaginal ultrasound with color doppler. In this procedure, a doctor inserts a small monitor through a woman's vagina and then uses ultrasound, or sound waves, to view the ovaries on a computer screen. The addition of color doppler allows the doctor to see detail about blood flow in the tissue, which helps detect abnormalities that can indicate ovarian cancer.
CA-125 testing. This test measures the level of the chemical CA-125, which is known as a tumor marker, in an individual's bloodstream. Because ovarian cancers usually produce this chemical, an above-average amount of CA-125 can indicate ovarian cancer. This test is most accurate for postmenopausal women.

Often doctors will recommend performing both tests to increase their chances of detecting cancer. If either test yields abnormal results, your doctor may recommend that you undergo a laparoscopy to verify the results. In this surgical procedure, a physician inserts a thin, lighted tube through a small surgical cut made in the abdominal wall so that he or she can look directly at the ovaries.

Ovarian Cancer Screening Guidelines

The following table summarizes screening guidelines proposed by the Cancer Genetics Studies Consortium and based on expert opinion for women who have inherited a high risk for ovarian cancer:

It's important to note that the above screening recommendations may be modified depending on an individual's medical history — for example, whether that person has additional risk factors, the presence of abnormalities on screening tests, and whether or the person has had her ovaries removed to lower her risk of cancer.

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Additional Screening Options for Families With BRCA Mutations

Colon cancer. Both female and male carriers of BRCA mutations may have an increased risk for colon cancer and are therefore encouraged to follow screening recommendations for the general population. Currently this means undergoing an annual fecal occult blood test and sigmoidoscopy every three to five years beginning at the age of 50.

Prostate cancer. Males with BRCA mutations may also have an increased risk for prostate cancer and should consider following the population guidelines for prostate screening, proposed by the American Cancer Society. The screening includes annual rectal examination and prostate-specific antigen (PSA) level beginning at age 50.

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	Note
	Many clinical and policy organizations issue their own screening and prevention guidelines. The Genetic Health site highlights guidelines that are widely respected and recommended. However, we encourage you to decide which guidelines are best for you by discussing them with a healthcare provider who is familiar with your situation and needs.

Resources

American Cancer Society Breast Cancer Resource Center
(including information on how to perform a breast self-examination)

References

US Preventative Services Task Force. (1996). Guide to clinical preventive services. (2nd ed.) Alexandria, VA: International Medical Publishing.

Burke W., et al. (1997). Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 277(12):997-1003.

Daly, M. et al. (1999). NCCN practice guidelines: genetics/familial high-risk cancer screening. Oncology. 13:161-183

Eisinger F. et al. (1998). Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol. 9(9):939-50.

NIH Consensus Conference. (1995). Ovarian cancer. Screening, treatment, and follow-up. NIH Consensus Development Panel on Ovarian Cancer. JAMA. 273(6):491-7.

Andolf, E. et al. (1990) Ultrasound examination for detection of ovarian carcinoma in risk groups. Obstet Gynecol. 75(1):106-109.