Breast Cancer, Female

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

Demographics

• 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 ...