ESSENTIALS OF DIAGNOSIS
Lobular or ductal carcinoma in situ is localized breast cancers.1
Invasive breast cancer extends beyond the ducts and lobules and may present as a palpable mass.
Inflammatory breast cancers can be mistaken for skin infection.
Guidelines for early detection have evolved significantly.
Breast cancer is the second most common cancer in women after skin cancer. BRCA1 and BRCA2 tumor suppressor genes confer strong risk. Other risk factors include earlier age of menarche, later age of menopause, nulliparity, and late age of first birth, all reflecting higher total number of ovarian cycles. Obesity, alcohol use, older age, decreased physical activity, and other genetic and environmental factors have been linked to breast cancer. Recent studies challenge hormone replacement therapy (HRT) as a risk for breast cancer. Prenatal exposure to diethylstilbestrol (DES) has also been linked to increased risk for breast cancer.
Women positive for the heritable BCRA mutation may benefit from the prophylactic selective estrogen receptor modulator tamoxifen and prophylactic total mastectomy. Women whose family history is associated with an increased risk for BRCA mutation be referred for genetic counseling and evaluation for BRCA testing (Table 27–1). Neither routine BRCA testing nor prophylactic medication is recommended for the general population. Smoking is a risk factor for cancer development, and cessation should be recommended in all current smokers.
Table 27–1.Indications for genetic referral for BRCA testing. ||Download (.pdf) Table 27–1. Indications for genetic referral for BRCA testing.
A first-degree relative with breast cancer before age 40
Two or more relatives with breast or ovarian cancer at any age
Three or more relatives with breast, ovarian, or colon cancer at any age
Breast cancer most commonly presents as a painless, irregularly bordered mass. Other presentations may include local swelling, dimpling, breast pain, nipple discharge, and other breast or nipple changes. Advanced clinical presentations may include pain and/or fracture from bony metastasis.
A. Clinically Evident Mass
A concerning breast mass can be further evaluated through diagnostic mammography, ultrasound with or without fine-needle aspiration, and/or ductal lavage and/or ductogram. Genetic and hormonal receptor testing further differentiates breast cancers.