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For further information, see CMDT Part 17-07: Carcinoma of the Female Breast

Key Features

Essentials of Diagnosis

  • Early findings

    • Mammographic abnormalities

    • No palpable mass, or

    • Single, nontender, firm to hard mass with ill-defined margins

  • Later findings

    • Breast mass, enlargement, redness, edema, pain

    • Skin or nipple retraction

    • Fixation of mass to skin or chest wall

    • Axillary lymphadenopathy

General Considerations

  • Risk of breast cancer

    • Rises rapidly with advancing age until early 60s, peaks in 70s, and then declines

    • Is doubled in those who have one first-degree relative diagnosed with breast cancer

    • Is tripled in those with two first-degree relatives diagnosed with breast cancer

    • Is further increased if disease in affected family member is bilateral or diagnosed before menopause

    • Is increased in nulliparous women and women whose first full-term pregnancy occurred after the age of 30

    • Is increased if menarche begins at age < 12 or natural menopause occurs at age > 55, especially for hormone receptor–positive breast cancer

    • Increased risk if history of uterine cancer

    • Appears to increase with use of combined oral contraceptive pills; longer use is associated with higher risk

    • May also increase with alcohol consumption, high dietary intake of fat and lack of exercise

  • Increased incidence of breast cancer with fibrocystic disease

    • On biopsy

      • Proliferative changes

      • Papillomatosis

      • Atypical epithelial hyperplasia

    • On mammogram

      • Increased breast density

  • Contralateral cancer develops in women with prior breast cancer at a rate of 1–2% per year

  • Risk of breast cancer with gene mutations

    • Estimated 85% lifetime risk in women with BRCA1 gene mutations

    • Increased risk with BRCA2, ataxia-telangiectasia, and p53 gene mutations

    • Other mutations have been identified that increase the risk of breast cancer but have significantly lower risk than BRCA mutations


  • Second most common cancer in women

  • Second most common cause of cancer death in women

  • 279,100 new cases and 42,690 deaths from breast cancer in US women in 2020

  • Worldwide, breast cancer is diagnosed in approximately 2.2 million women, and about 684,996 die of breast cancer each year

Clinical Findings

Symptoms and Signs

  • Presenting complaint is a lump (usually painless) in 70%

  • Less frequently

    • Breast pain

    • Nipple discharge

    • Erosion, retraction, enlargement, or itching of the nipple

    • Redness, generalized hardness, enlargement, or shrinking of the breast

    • Axillary mass or swelling of the arm (rare)

  • With metastatic disease, back or bone pain, jaundice, or weight loss

  • Physical examination is done with patient sitting, arms at sides and then overhead, and supine with arm abducted

  • Findings include

    • Nontender, firm or hard mass with poorly delineated margins

    • Skin or nipple retraction or dimpling

    • Breast asymmetry

    • Erosions of nipple epithelium

    • Watery, serous or bloody discharge

  • Metastatic disease suggested by

    • Firm or hard axillary nodes > 1 cm

    • Axillary nodes that are matted or fixed to skin or deep structures indicate advanced disease ...

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