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INCIDENCE AND EPIDEMIOLOGY

The most common tumor in women; 266,120 women in the United States were diagnosed in 2019 and 40,920 died with breast cancer. Men also get breast cancer; F:M is 150:1. Breast cancer is hormone-dependent. Women with late menarche, early menopause, and first full-term pregnancy by age 18 years have a significantly reduced risk. The average American woman has about a one in nine lifetime risk of developing breast cancer. Dietary fat is a controversial risk factor. Oral contraceptives have little, if any, effect on risk and lower the risk of endometrial and ovarian cancer. Voluntary interruption of pregnancy does not increase risk. Estrogen replacement therapy may slightly increase the risk, but the beneficial effects of estrogen on quality of life, bone mineral density, and decreased risk of colorectal cancer appear to be somewhat outnumbered by increases in cardiovascular and thrombotic diseases. Women who received therapeutic radiation before age 30 years are at increased risk. Breast cancer risk is increased when a sister and mother also had the disease.

GENETICS

Perhaps 8–10% of breast cancer is familial. BRCA-1 mutations account for about 5%. BRCA-1 maps to chromosome 17q21 and appears to be involved in transcription-coupled DNA repair. Ashkenazi Jewish women have a 1% chance of having a common mutation (deletion of adenine and guanine at position 185). The BRCA-1 syndrome includes an increased risk of ovarian cancer in women and prostate cancer in men. BRCA-2 on chromosome 11 may account for 2–3% of breast cancer. Mutations are associated with an increased risk of breast cancer in men and women. Germ-line mutations in p53 (Li-Fraumeni syndrome) are very rare, but breast cancer, sarcomas, and other malignancies occur in such families. Germ-line mutations in PALB2, hCHK2, and PTEN may account for some familial breast cancer. Sporadic breast cancers show many genetic alterations, including overexpression of HER2/neu in 25% of cases, p53 mutations in 40%, and loss of heterozygosity at other loci.

Genetic analysis has defined distinct subsets of breast cancers (see below). Tests for expression of panels of genes have been developed that can predict clinical behavior and be used to determine type and duration of therapy.

DIAGNOSIS

Breast cancer is usually diagnosed by biopsy of a nodule detected by mammogram or by palpation. Women should be strongly encouraged to examine their breasts monthly. In premenopausal women, questionable or nonsuspicious (small) masses should be reexamined in 2–4 weeks. A mass in a premenopausal woman that persists throughout her cycle and any mass in a postmenopausal woman should be aspirated. If the mass is a cyst filled with nonbloody fluid that goes away with aspiration, the pt is returned to routine screening. If the cyst aspiration leaves a residual mass or reveals bloody fluid, the pt should have a mammogram and excisional biopsy. If the mass is solid, the pt should undergo a mammogram and excisional ...

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