Imaging-based artificial intelligence (AI) models for breast cancer risk assessment added to US guidelines
Updated breast cancer screening and diagnosis guidelines from the National Comprehensive Cancer Network (NCCN) now include the use of validated imaging-based AI risk assessment models to determine risk of breast cancer, and strategies for screening and risk-reduction.
The imaging-based AI risk assessment models can be used to analyze negative screening mammograms to detect subtle tissue patterns associated with future malignancy, from which they generate a risk assessment score.
The NCCN guideline recommends increased risk screening follow-up for women with an AI-generated 5-year risk for invasive breast cancer ≥1.7%. Increased risk screening follow-up includes annual mammography with tomosynthesis, discussion of risk reduction strategies, and consideration of supplemental imaging, which should start at the age when increased risk is identified. Women assessed using a validated imaging-based AI risk model should be re-evaluated periodically, because their risk may change over time.
Clinical risk prediction models are widely used in current practice; however, these may overestimate or underestimate risk or be unsuitable for certain groups. One systematic review reported similar or improved discriminatory accuracy with mammography-based AI risk models compared with risk based on breast density or clinical risk prediction models.[113]
Further prospective studies are needed to fully determine the role of imaging-based AI risk assessment models in breast cancer risk assessment and screening.
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 is on the Advisory Board for Kubtec and the speaker bureau for Endomag/Hologic.
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
Savannah Liddell, MD
Fellow
Mayo Clinic College of Medicine and Science
Rochester, MN
Disclosures
SL declares that she has no competing interests.
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
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
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast, ovarian, pancreatic, and prostate
- NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis
More GuidelinesPatient information
Breast cancer, locally advanced: what is it?
Breast cancer, locally advanced: what are the treatment options?
More Patient information
Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer