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Primary invasive breast cancer

Last reviewed: 23 Sep 2025
Last updated: 15 Aug 2025

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • breast mass
  • nipple discharge
  • axillary lymphadenopathy
Full details

Other diagnostic factors

  • skin thickening or discoloration
  • retraction, inversion, or scaling of the nipple
Full details

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 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 magnetic resonance imaging (MRI)
  • reduced physical activity
  • poor diet
  • high socioeconomic status
  • smoking
  • obesity
  • high dibutyl-phthalate exposure
Full details

Diagnostic investigations

1st investigations to order

  • mammogram
Full details

Investigations to consider

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

Treatment algorithm

ACUTE

early-stage breast cancer (stages I to IIB [T2 N1 M0])

locally advanced breast cancer (stages IIB [T3 N0 M0] to III)

ONGOING

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.

Agradecimentos

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.

Declarações

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.

Revisores

Katherine H.R. Tkaczuk, MD, FACP

Professor of Medicine

University of Maryland School of Medicine

Baltimore

MD

Declarações

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

Declarações

ERS declares that he has no competing interests.

Créditos aos pareceristas

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Declarações

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Referências

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Principais artigos

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis [internet publication].Texto completo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer [internet publication].Texto completo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
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  • Diretrizes

    • NCCN clinical practice guidelines in oncology: breast cancer risk reduction
    • ACR appropriateness criteria: female breast cancer screening
    Mais Diretrizes
  • Folhetos informativos para os pacientes

    Breast cancer, locally advanced: what is it?

    Breast cancer, locally advanced: what are the treatment options?

    Mais Folhetos informativos para os pacientes
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