Breast Disorders and Breast Cancer Screening
PREVALENCE
In one study, 16% of women between ages 40 and 69 years came to the doctor with breast complaints over a 10-year period.1 Estimates of the number of insured women between ages 50 and 64 years getting screening mammography at least every 2 years vary from 72% to 81%2; uninsured women clearly obtain less preventive care. Breast cancer is diagnosed in about 213,000 women in the United States each year. The breast cancer mortality rate has declined gradually since 1990 to about 41,000 per year.
PATHOPHYSIOLOGY
Risk factors for the development of breast cancer include increased age, genetic predisposition, and increased exposure to estrogen.3 Breast cancer risk is increased even if the nearest relative with breast cancer is a third-degree relative.4 Among women with a positive family history of breast cancer, having multiple first-degree relatives with premenopausal breast cancer confers the highest risk; a small minority of these are associated with BRCA1 or BRCA2 mutations. A number of models for assessing risk of carrying a mutation have been proposed. All account for early-onset breast cancer in the family, and most give weight to the number of affected relatives.5
Increased exposure to estrogen modestly raises the risk of breast cancer. Early menarche (before age 12 years) and late menopause (after age 55 years), both markers of increased estrogen exposure, confer some increased risk. The role of hormone therapy (HT) is controversial. The Women’s Health Initiative, the first large-scale randomized placebo-controlled trial of postmenopausal hormone use, showed a 26% increased risk of breast cancer. However, this was after 5.2 years of use and only in women who used combination estrogen and progestin in the form of Prempro.6 In contrast, women in the estrogen-only arm of this trial, using Premarin, did not have any increased risk of breast cancer. The Million Women Study in the United Kingdom is the largest nonrandomized study of hormone use. This study concluded that all types of hormone use, including estrogen-only forms, increased the risk of breast cancer compared with never users. The risk increased with increasing duration of use.7
DIAGNOSIS
History
Symptoms of nipple discharge should be elicited. The overall rate of malignancy is low (probably around 1%). If the discharge is nonbloody, the risk of cancer is lower. Purulent discharge may be caused by mastitis or a breast abscess. Milky discharge may persist after childbearing and can occur with some medications (see “Treatment”). An endocrine workup (for prolactin excess) may be needed if symptoms are sustained or are associated with menstrual problems. Prior biopsies, prior treatments, and use of hormones should be ascertained.
Risk factors for cancer should be assessed whether symptoms are present or the visit is for screening only. These include age, menarche before age 12 years, menopause after age 55 years, and first live birth at age 30 years or older. Information should be obtained about previous biopsies (whether ductal hyperplasia and, if so, whether atypical), and the number of first-degree relatives with breast cancer (and at what age their cancer was detected). The Gail Model Risk Assessment Tool may be used to help calculate risk from these history questions.8 A computer disk for use of the Gail model is available from the National Cancer Institute to use in calculating this. Such estimates can aid in decision making, particularly about chemoprevention.
Physical Examination
There is an overall consensus that clinical breast examination (CBE) is useful in screening as well as in evaluation of a lump, although there has been debate on this issue. Four screening clinical trials included both mammography and CBE, four others evaluated mammography only, but no trial studied CBE alone without mammography. In a comparison of studies including both screening modalities, the range of cancers detected by CBE but not by mammography was 3% to 45%. Although the sensitivity of mammography is greater than that of CBE, there is a residual diagnostic value of CBE that favors its continued use in screening.9
Careful, systematic palpation has been shown to increase detection of breast lumps. Patient position, palpation of breast boundaries, and examination pattern and technique are important variables in CBE.9
The examination pattern should be systematic. It is important to include the area bordering the clavicle, and laterally toward the axilla, so as to ensure examination of all breast tissue. One preferred method is to start at the axilla in the midaxillary line and then cover the breast by palpating in parallel lines, in vertical strips to the sternum. A rectangular area bordered by the clavicle, the midsternum, the midaxillary line, and the bra line should be covered (Fig. 1). Small circular motions should be made at each step using the pads of the index, third, and fourth fingers, with gradated pressure (Fig. 2).
Figure 1 Position of the patient and direction of palpation for clinical breast examination.
(From Barton MB, Harris R, Fletcher SW: Does this patient have breast cancer? The screening clinical breast examination: Should it be done? How? JAMA 1999;282:1270-1280.)
The character of breast lumps is particularly important. Characteristics that suggest cancer include a hard or gritty texture, immobility, an irregular border, and a size greater than 2 cm. A new dominant mass or a gritty or growing lump deserves evaluation by a breast specialist. Unfortunately, likelihood ratios for these signs indicating cancer are not very large, except for the presence of fixed lesions and lump size greater than 2 cm.9
After the history and physical examination, further assessment of breast lumps may include careful clinical follow-up, ultrasound, mammography, and biopsy. Guidelines for screening mammography are reviewed in the “National Guidelines” section.
Mammography
Mammography may be performed as an adjunct to the physical examination in evaluating breast lumps or as a screening tool. Mammography is not generally useful in women younger than 35 years who present with a lump.10 Ultrasonography may be useful in evaluating lumps in these younger women, although it is important to refer to a breast specialist for any lesion in doubt.
Screening
A consensus has emerged that women between 50 and 69 years should be screened by mammography. Results of a meta-analysis11 of breast cancer screening trials found a 26% reduction in breast cancer mortality over 7 to 9 years among women screened at ages 50 to 74 years.
For women first screened in their 40s, the magnitude of breast cancer mortality reduction is at best 18% after 10 to 18 years of follow-up.12 Although some guidelines discuss starting mammographic screening earlier in women with a family history of breast cancer, data on the sensitivity of mammograms show no better cancer detection rates in this group.13 However, due to a higher pretest probability of breast cancer in those with a family history, the positive predictive value of mammograms is higher for those women (and therefore the false-positive rate is lower for them).
The number needed to be screened to prevent one death from breast cancer is estimated at between 1500 and 2500 for women screened in their 40s.14 In addition, nearly one half of women screened starting at age 40 years have at least one abnormal screening mammogram during the subsequent 10-year period, leading to additional mammographic views and biopsies for a significant number. Many of these abnormal screening studies prove to be false positives.