Summary
Definition
History and exam
Key diagnostic factors
- breast mass
- nipple discharge
- axillary lymphadenopathy
Other diagnostic factors
- skin thickening or discoloration
- retraction, inversion, or scaling of the nipple
Risk factors
- increasing age
- female sex
- ethnic origin
- positive family history of breast and/or other cancers
- genetic mutations in breast cancer susceptibility genes
- endogenous estrogen exposure
- exogenous estrogen/progestin exposure
- alcohol consumption
- radiation exposure
- atypical breast disease
- increased breast density
- mild, moderate, or marked background parenchymal enhancement (BPE) on breast magnetic resonance imaging (MRI)
- reduced physical activity
- poor diet
- high socioeconomic status
- smoking
- obesity
- high dibutyl-phthalate exposure
Diagnostic tests
1st tests to order
- mammogram
Tests to consider
- breast ultrasound
- breast MRI
- biopsy
- hormone receptor testing
- HER2 testing
- gene expression assays
- computed tomography
- bone scan
- genetic testing
- CBC
- LFTs
- alkaline phosphatase
Treatment algorithm
early-stage breast cancer (stages I to IIB [T2 N1 M0])
locally advanced breast cancer (stages IIB [T3 N0 M0] to III)
disease recurrence
Contributors
Authors
Kandace P. McGuire, MD
Professor of Surgery
Virginia Commonwealth University
Richmond
VA
Disclosures
KPM declares that she has no competing interests.
Acknowledgements
Dr Kandace McGuire would like to gratefully acknowledge Dr Krystal Cascetta, Professor Amy Tiersten, Dr Hope S. Rugo, Dr Amal Melhem-Bertrandt, Dr Gabriel N. Hortobagyi, and Dr Phuong Khanh H. Morrow, the previous contributors to this topic.
Disclosures
KC, AMB, GNH, and PKHM declare that they have no competing interests. AT is on the advisory board for Immunomedics, AstraZeneca, Novartis, Eisai, and Healthline; receives research funding from Pfizer, Novartis, Genentech, Lilly, and AstraZeneca; and does expert testimony work. HSR receives research funding through the University of California from Novartis, Pfizer, Genentech, Macrogenics, Plexxikon, Merck, Nektar, and GSK; has been reimbursed for travel by Novartis, Genentech, and Nektar; and has received speaker honorarium from Genomic Health.
Peer reviewers
Katherine H.R. Tkaczuk, MD, FACP
Professor of Medicine
University of Maryland School of Medicine
Baltimore
MD
Disclosures
KHRT declares that she has no competing interests.
Susan Tannenbaum, MD
Associate Professor, Medicine
Chief, Division of Hematology/Oncology
Medical Director, Neag Comprehensive Cancer Center
University of Connecticut
Farmington
CT
Disclosures
ST declares that she has no competing interests.
Emily Hsu, MD
Fellow
Division of Hematology/Oncology
University of Connecticut
Farmington
CT
Disclosures
EH declares that she has no competing interests.
Anees Chagpar, MD
Assistant Professor
University of Louisville
Louisville
KY
Disclosures
AC declares that she has no competing interests.
Gurhan Celik, MD
General Surgeon
General Surgery Department
Istanbul Training and Research Hospital
Istanbul
Turkey
Disclosures
GC is an author of a number of references cited in this topic.
Edward R. Sauter, MD, PhD
Medical Officer
Breast and Gynecologic Cancer Working Group
Division of Cancer Prevention
National Cancer Institute
Bethesda
MD
Disclosures
ERS declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis [internet publication].Full text
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer [internet publication].Full text
Loibl S, André F, Bachelot T, et al. Early breast cancer: ESMO clinical practice guideline for diagnosis, treatment and follow-up. Ann Oncol. 2024 Feb;35(2):159-82.Full text Abstract
Denduluri N, Somerfield MR, Eisen A, et al. Selection of optimal adjuvant chemotherapy regimens for human epidermal growth factor receptor 2 (HER2)-negative and adjuvant targeted therapy for HER2-positive breast cancers: an American Society of Clinical Oncology guideline adaptation of the Cancer Care Ontario clinical practice guideline. J Clin Oncol. 2016 Jul 10;34(20):2416-27.Full text Abstract
Park KU, Somerfield MR, Anne N, et al. Sentinel lymph node biopsy in early-stage breast cancer: ASCO guideline update. J Clin Oncol. 2025 May 10;43(14):1720-41.Full text Abstract
Lyman GH, Somerfield MR, Bosserman LD, et al. Sentinel lymph node biopsy for patients with early-stage breast cancer: American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol. 2017 Feb 10;35(5):561-64.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Fibrocystic changes
- Fibroadenoma
- Mastitis
More DifferentialsGuidelines
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- ACR appropriateness criteria: female breast cancer screening
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