Overview
- Breast cancer is a malignant tumor that develops from breast tissue cells, most commonly originating in milk ducts (ductal carcinoma) or milk-producing glands (lobular carcinoma).
- Most common cancer in women worldwide affecting 1 in 8 women during lifetime; also occurs in men though rare representing less than 1% of all breast cancers.
- Early detection through screening mammography significantly improves survival rates with 5-year survival exceeding 99% for localized disease.
Types & Classification
- Ductal Carcinoma In Situ (DCIS): Non-invasive cancer confined to milk ducts; not spread through duct walls; nearly 100% cure rate with appropriate treatment.
- Invasive Ductal Carcinoma: Most common type (70-80% of cases) starting in milk ducts but invading surrounding breast tissue; potential to spread to lymph nodes and distant sites.
- Invasive Lobular Carcinoma: Begins in milk-producing glands; accounts for 10-15% of invasive cancers; more likely to be multifocal and bilateral.
- Triple-Negative Breast Cancer: Lacks estrogen, progesterone receptors and HER2 protein; more aggressive, limited targeted therapy options, higher recurrence rates.
- HER2-Positive Breast Cancer: Overexpresses HER2 protein promoting rapid growth; responds to targeted HER2 therapies (trastuzumab, pertuzumab) improving outcomes dramatically.
- Hormone Receptor-Positive: Contains estrogen and/or progesterone receptors; responds to hormone therapy blocking estrogen effects; most common subtype with favorable prognosis.
- Inflammatory Breast Cancer: Rare aggressive form causing breast redness, swelling, warmth; cancer blocks lymph vessels in skin requiring immediate intensive treatment.
- Paget's Disease of Breast: Rare cancer affecting nipple and areola; usually associated with underlying ductal carcinoma requiring complete evaluation.
Signs & Symptoms
- Breast Lump or Mass: New lump or thickening in breast or underarm area; most common presenting symptom though majority of lumps are benign requiring evaluation.
- Breast Pain: Persistent localized pain or tenderness in specific breast area; while most breast cancers painless, new persistent pain warrants investigation.
- Nipple Changes: Nipple retraction, inversion, or deviation; bloody or clear discharge from single duct; scaling or crusting of nipple skin.
- Skin Changes: Dimpling, puckering, or indentation of breast skin; orange-peel texture (peau d'orange); persistent redness or rash around nipple.
- Breast Size or Shape Changes: Unexplained change in breast size, shape, or contour; asymmetry developing between breasts; visible bulge or flattening.
- Swollen Lymph Nodes: Enlarged firm lymph nodes in armpit or above collarbone; may be first sign of cancer spread to regional nodes.
- Breast Warmth and Redness: Inflammatory breast cancer presents with sudden breast enlargement, warmth, redness covering large area requiring urgent evaluation.
Etiology & Pathophysiology
- Genetic Mutations: BRCA1 and BRCA2 mutations account for 5-10% of breast cancers; carriers have 45-85% lifetime risk requiring intensive surveillance.
- Hormonal Influences: Prolonged estrogen exposure increases risk; early menstruation, late menopause, nulliparity, delayed first pregnancy increase cumulative exposure.
- Dense Breast Tissue: Higher proportion of glandular and fibrous tissue increases cancer risk 4-6 fold; also makes mammography screening less sensitive.
- Radiation Exposure: Chest radiation before age 30 (Hodgkin's lymphoma treatment) significantly elevates breast cancer risk decades later.
- Lifestyle Factors: Alcohol consumption, obesity, physical inactivity, hormone replacement therapy use contribute to increased risk through multiple mechanisms.
- Acquired Mutations: Accumulation of DNA damage in breast cells over time from aging, environmental factors, oxidative stress leading to uncontrolled growth.
Complications
- Lymphedema: Chronic arm swelling from lymph node removal or radiation damaging lymphatic drainage; risk persists lifelong requiring preventive measures.
- Metastatic Disease: Cancer spread to bones, lungs, liver, brain becoming incurable though treatable; focus shifts to prolonging life and maintaining quality.
- Cardiotoxicity: Certain chemotherapy drugs (anthracyclines) and targeted therapies (trastuzumab) can damage heart requiring cardiac monitoring during treatment.
- Bone Health Issues: Aromatase inhibitors, chemotherapy, early menopause increase osteoporosis risk requiring bone density monitoring and protective medications.
- Cognitive Changes: Chemotherapy-related cognitive impairment (chemo brain) affecting memory, concentration, executive function; may persist months to years.
- Psychological Distress: Anxiety, depression, fear of recurrence commonly experienced; emotional support and counseling essential components of comprehensive care.
Risk Factors
- Female Gender: Women 100 times more likely than men to develop breast cancer; male breast cancer rare but does occur.
- Advancing Age: Risk increases with age; median age at diagnosis 62 years; 1 in 68 chance by age 50, 1 in 29 by age 70.
- Family History: First-degree relative with breast cancer doubles risk; risk increases with number of affected relatives and younger age at diagnosis.
- Personal History: Prior breast cancer increases risk of developing second primary in opposite breast or recurrence; requires lifelong surveillance.
- Reproductive History: Early menarche (<12 years), late menopause (>55 years), nulliparity, first pregnancy after age 30 increase cumulative estrogen exposure.
- Hormone Therapy: Combined estrogen-progestin hormone replacement therapy for >5 years increases risk; estrogen-only therapy lower risk profile.
- Alcohol Consumption: Each additional daily alcoholic drink increases breast cancer risk by 7-10%; even moderate consumption elevates risk.
- Obesity: Postmenopausal women with elevated BMI have increased risk from higher estrogen production in adipose tissue and inflammatory factors.
Prevention Strategies
- Regular Screening Mammography: Annual mammograms starting age 40-45 for average-risk women; earlier screening for high-risk individuals enables early detection.
- Risk-Reducing Medications: Tamoxifen or raloxifene for high-risk women reduces breast cancer incidence by 30-50%; aromatase inhibitors for postmenopausal women.
- Prophylactic Mastectomy: Risk-reducing bilateral mastectomy for BRCA carriers reduces breast cancer risk by >90%; individualized decision with genetic counseling.
- Prophylactic Oophorectomy: BRCA mutation carriers removing ovaries before age 40 reduces breast cancer risk 50% and ovarian cancer risk 80-90%.
- Limit Alcohol Consumption: Restrict alcohol to one drink daily or less; abstinence provides greatest risk reduction.
- Maintain Healthy Weight: Achieve and maintain healthy BMI through balanced diet and regular exercise especially after menopause when obesity risk greatest.
- Physical Activity: Regular moderate to vigorous exercise 4-7 hours weekly reduces breast cancer risk by 10-20% through multiple mechanisms.
- Breastfeeding: Extended breastfeeding duration reduces breast cancer risk; protective effect increases with longer duration.
- Limit Hormone Therapy: Avoid or minimize duration of menopausal hormone therapy; use lowest effective dose for shortest duration treating symptoms.