1. Etiology
1.1. Genetic mutation of the BRCA1 and BRCA2 genes are linked with hereditary breast and ovarian cancer (Gentilesco, 2016).
1.1.1. These genes are function as tumor suppressing genes, any mutation leads to cell cycle progression and limitation in DNA repair (Gentilesco, 2016).
1.2. Mutation in receptors, both estrogen and progesterone, caused by genetic changes lead to cell progression by inducing D1 and c-myc expression later (Gentilesco, 2016).
1.3. One-third of BCs do not have estrogen receptors (ER) mutation; however, there may be correlation with ER and epidermal growth factor receptors (EGFR) (Gentilesco, 2016).
2. Risk Factors
2.1. Women
2.1.1. Being female (Gentilesco, 2016)
2.1.2. Nulliparity or giving birth to first child when older (Gentilesco, 2016)
2.1.3. Early menarche (Gentilesco, 2016)
2.1.4. Delayed menopause (Gentilesco, 2016)
2.1.5. Personal history of ovarian cancer (Gentilesco, 2016)
2.1.6. Long term use of hormone replacement therapy
2.1.7. Over consumption of alcohol (Gentilesco, 2016)
2.1.8. Active use of oral contraceptive (risk decrease with use ceases) (Gentilesco, 2016)
2.2. Men
2.2.1. Men are less at risk for BC, but risk increase with Klinefelter syndrome, testicular pathology, family history, and BRCA2 mutations. (Gentilesco, 2016)
2.2.2. Men are at an increased risk if they are found to have high levels of estrogen which leads to the development of breast tissue thereby increasing his risk if BC (Barber, 2014).
2.3. Anyone
2.3.1. Race (e.g., Ashkenazi Jewish) (Gentilesco, 2016)
2.3.2. Family history (more than 1 family member with BC, or CA of the adrenal cortex, thyroid, pancreas, CNS, lymphoma, endometrium, or sarcoma) (Gentilesco, 2016)
2.3.3. Genetics (Gentilesco, 2016)
2.3.4. Increasing age (Gentilesco, 2016)
2.3.5. Previous history of BC (Gentilesco, 2016)
2.3.6. Obesity or high BMI (Gentilesco, 2016)
2.3.7. Physical inactivity (Gentilesco, 2016)
2.3.8. Dense breast tissue (Gentilesco, 2016)
2.3.9. Prior chest radiation (lymphoma) diethylstilbestrol exposure (Gentilesco, 2016)
3. Common findings
3.1. Most likely to metastasis to the lungs, bone, brain, and liver (Gentilesco, 2016).
3.2. Ductal, lobular, or other cancers: inflammatory component, invasive/noninvasive cells, differentiated margins, nodal involvement (Gentilesco, 2016).
3.3. Nodal micrometastases: increased risk of disease recurrence
3.4. Clinical signs/symptoms: most common sign is pain; other signs include fatigue, weight loss, and a poor appetite (Peart, 2017).
4. References
4.1. Barber, C. (2014). Men's health series 4: men and breast cancer. British Journal of Healthcare Assistants, 8(10), 486-499.
4.2. Gentilesco, B. (2016). Breast Cancer. In F. J. Domino, R. A. Baldor, J. Golding, & M. B. Stephens, The 5-minute clinical consult (pp. 140-141). Philadelphia: Wolter Kluwer.
4.3. Peart, O. (2017). Metastatic Breast Cancer. Radiology Technology, 88(5), 519M-541M.
5. Inforamtion
5.1. Malignant tumor deriving from epithelial cells, granular cells, or connective tissue in the breast (Gentilesco, 2016).
5.2. Types: Ductal carcinoma in situ (DCIS), Invasive infiltrating ductal carcinoma, invasive lobular carcinoma, inflammatory breast cancer, Paget’s disease of the nipple, phyllodes tumor, angiosarcoma (Gentilesco, 2016).
5.3. Most common cancer in women in the US, 2nd only to lung cancer in mortality (Gentilesco, 2016).
5.4. 122 cases per 100,00 women per year, from 2005-2009 (Gentilesco, 2016).
6. If stage 1 or 2: consider additional studies if signs and symptoms warrant (Gentilesco, 2016).
7. Causative Factors
7.1. BRCA1 and BRCA2 gene mutation (Gentilesco, 2016).
7.2. Cowden syndrome – autosomal dominant; BC; endometrial CA; benign thyroid lesions; microcephaly; nonmedualary thyroid CA; and hamartomas of the skin, intestines, and oral mucosa (Gentilesco, 2016).
7.3. Li-Fraumeni syndrome – autosomal dominant; BC, CNS cancers in the adrenal cortex, sarcoma, leukemia, and osteosarcoma (Gentilesco, 2016).
7.4. Peutz-Jeghers – autosomal dominant; CA of the breast, lung, GI tract, ovary , and uterus; and hamartomatous polyps of the GI tract, buccal mucosa, toes, finger, mucocutaneous melanin of the lips (Gentilesco, 2016).
8. Diagnostic Tests
8.1. Golden standard: Mammography (Gentilesco, 2016)
8.2. Testing is based on findings
8.2.1. Palpable mass and over 30 years of age – obtain screening mammogram, which may be followed with a diagnostic mammogram which includes a breast ultrasound and/or a core needle biopsy (Gentilesco, 2016).
8.2.2. Spontaneous nipple discharge: obtain diagnostic mammogram and breast ultrasound. If negative or benign obtain a ductogram or breast MRI. If suspicious, may require lumpectomy (Gentilesco, 2016).
8.2.3. Palpable mass and below 30 years of age – Obtain a breast ultrasound; if suspicious obtain a biopsy, if low clinical suspicion follow-up with a repeat mammogram in 6 months and observe if mass changes with menstrual cycle (Gentilesco, 2016).
8.2.4. Asymmetric thickening/nodularity and over 30 years of age: obtain mammogram and breast ultrasound, with possible biopsy if suspicious (Gentilesco, 2016).
8.2.5. Asymmetric thickening/nodularity and below 30 years of age: obtain ultrasound, if there is a finding, perform mammogram, if still suspicious obtain core biopsy (Gentilesco, 2016).
8.2.6. Skin changes (Peau d’orange): obtain mammogram, if there is a finding perform breast Ultrasound; biopsy if still suspicious (Gentilesco, 2016).
8.2.7. If BC is found: H&P, pathology review, genetic counseling, tumor marker testing, genetic testing, CBC, LFTs, ALP, and fertility counseling (Gentilesco, 2016).
8.2.8. • If stage 3 or higher:
8.2.8.1. Chest/abdomen/pelvis CT to check for metastasis, abdominal symptom, chest symptoms, and elevated LFTs (Gentilesco, 2016).
8.2.8.2. Bone scan: to localize pain and if there are elevated alkaline phosphate levels (Gentilesco, 2016).
8.2.8.3. Nodal micrometastases: increased risk of disease recurrence (Gentilesco, 2016).
8.2.8.4. PET (positron emission tomography) scan to check for metastasis (Gentilesco, 2016).
8.2.8.5. MRI of the spinal cord: CNS symptoms (Gentilesco, 2016).
9. Treatment
9.1. Medications
9.1.1. Specific treatment is based on the patient’s overall health status, age, cancer grade, medical history, cancer type, stage of cancer, and other comorbidities (Peart, 2017).
9.1.2. Secondary prevention: Aspirin use once a week may decrease death from BC by 50% (Gentilesco, 2016).
9.1.3. Chemoprevention/hormone therapy for patients over 35 years of age (Gentilesco, 2016).
9.1.4. Hormone therapy for ER+ tumors
9.1.4.1. Tamoxifen: 5-year treatment for premenopausal women with possibility of additional 5 years; total 10 year of treatment (Gentilesco, 2016).
9.1.4.2. Aromatase inhibitors: suggested use in postmenopausal women for 5 years following tamoxifen for 4.5-6 years, or tamoxifen for up to 10 years (Gentilesco, 2016).
9.1.4.3. Ovarian ablation or suppression or suppression with luteinizing hormone-releasing hormone agonist: used in premenopausal women (Gentilesco, 2016).
9.1.4.4. Anti-HER2/neu antibodies in select HER2/neu positive patients (Gentilesco, 2016).
9.1.5. Neoadjuvant chemotherapy (preop) – Premenopausal women will need fertility counseling before receiving chemotherapy. This is offered to women who have a locally advanced, inoperable BC; early operable BC for breast conservation; and women with triple negative BC (Gentilesco, 2016).
9.1.6. Dose-dense chemotherapy demonstrates overall survival advantage in early BC (Gentilesco, 2016).
9.1.7. Cytotoxic therapy: anthracyclines, taxanes, alkylating agents, and antimetabolites. Patient have a higher rate of recurrence after local treatment (Gentilesco, 2016).
9.2. • Surgery
9.2.1. Risk reducing mastectomy and bilateral salpingo-oophorectomy (Gentilesco, 2016).
9.2.2. Breast conserving partial mastectomy/lumpectomy; if margins are clear (Gentilesco, 2016).
9.2.3. o Modified radical mastectomy (Gentilesco, 2016).