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

Key Features

Essentials of Diagnosis

  • Risk factors

    • Age

    • Nulliparity

    • Childbirth after age 30

    • Family history of breast cancer or genetic mutations (BRCA1, BRCA2 or others)

    • Personal history of breast cancer or some types of proliferative conditions

  • Early findings

    • No palpable mass, or

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

    • Mammographic abnormalities

  • Later findings

    • Breast mass, enlargement, redness, edema, pain

    • Skin or nipple retraction

    • Fixation of mass to skin or chest wall

    • Axillary lymphadenopathy

General Considerations

  • A woman's risk of breast cancer rises rapidly until her early 60s, peaks in her 70s, and then declines

  • A significant family history of breast or ovarian cancer may also indicate a high risk of developing breast cancer

  • Germline mutations in the BRCA family of tumor suppressor genes or other breast cancer susceptibility genes account for approximately 5–10% of breast cancer diagnoses and tend to cluster in certain ethnic groups, including women of Ashkenazi Jewish descent

  • Women with a mutation in the BRCA1 gene, located on chromosome 17, have an estimated 85% chance of developing breast cancer in their lifetime

  • Other genes associated with an increased risk of breast and other cancers include

    • BRCA2 (associated with a gene on chromosome 13)

    • Ataxia-telangiectasia mutation (ATM), BARD1, CHEK2, PALB2, RAD51D

    • Mutation of the tumor suppressor gene p53

  • Primary care clinicians should assess a woman's personal and family history for breast, ovarian, tubal or peritoneal cancer using a familial risk assessment tool

  • Those with a positive result should receive genetic counseling in order to decide whether genetic testing is indicated


  • Second most common cancer in women

  • Second most common cause of cancer death in women

  • 268,000 new cases and 41,760 deaths from breast cancer in US women in 2019

  • Worldwide, breast cancer is diagnosed in approximately 2.1 million women, and about 626,679 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 (at least stage III)

  • Advanced stage (stage III ...

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