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Last reviewed: 20 Apr 2025
Last updated: 01 May 2025

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk 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
  • genetic mutations
  • endogenous oestrogen exposure
  • exogenous oestrogen/progestin exposure
  • alcohol consumption
  • radiation exposure
  • atypical breast disease
  • increased breast density
  • mild, moderate, or marked background parenchymal enhancement (BPE) on breast MRI
  • reduced physical activity
  • poor diet
  • high socioeconomic status
  • smoking
  • obesity
  • high dibutyl-phthalate exposure

Diagnostic investigations

Investigations to consider

  • breast ultrasound
  • breast MRI
  • biopsy
  • hormone receptor testing
  • HER2 testing
  • gene expression assays
  • computed tomography
  • genetic testing
  • FBC
  • LFTs
  • alkaline phosphatase

Treatment algorithm

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.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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

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):561-4.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available here.

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