Summary
Definition
History and exam
Key diagnostic factors
- bone pain
- pleural effusion
- palpable mass after treatment of the primary tumor
Other diagnostic factors
- shortness of breath
- anorexia
- weight loss
- neurologic pain or weakness, headaches, seizures
Risk factors
- female sex
- age >50 years
- family history of breast and/or ovarian cancer
- breast cancer type 1, early onset (BRCA1) or breast cancer type 2 susceptibility protein (BRCA2) mutation present in either parent
- PALB2 germline mutations
- CDH1 germline mutations
- tumor >5 cm in diameter
- high number of positive nodes (e.g., >10)
- lymphovascular invasion
- unfavorable 70-gene signature
- high-risk 21-gene signature
- minimal residual disease (MRD)
- bone metastasis and lung metastasis gene signatures
- Lynch family syndrome
- CHEK2 mutations
- ATM mutations
Diagnostic investigations
1st investigations to order
- CBC
- LFTs
- calcium
- chest x-ray
- CT (of chest and abdomen)
- bone scan
Investigations to consider
- MRI (focused on area of concern, e.g., bone, brain)
- PET scan
- biopsy of metastatic lesion
- multi-gated acquisition (MUGA) scan
- pleural cytology
- carcinoembryonic antigen
- cancer antigen 15-3
- cancer antigen 27-29
Treatment algorithm
Contributors
Authors
Edward Sauter, MD, PhD
Director
Breast Surgery Program
Hartford Healthcare
Hartford
Visiting Professor of Surgery
University of Connecticut School of Medicine
Farmington
CT
Disclosures
ES declares that he has no competing interests.
Puja Nistala, MD
Hematology and Oncology
Ellis Fischel Cancer Center
Margaret Proctor Mulligan Assistant Professor of Clinical Medicine
Medical Oncology - Breast Program Director
University of Missouri
Columbia
MO
Disclosures
PN declares that she has no competing interests.
Donald Doll, MD
Professor
Clinical Medicine
University of Missouri
Columbia
MO
Disclosures
Not disclosed.
Acknowledgements
Dr Edward Sauter, Dr Puja Nistala, and Dr Donald Doll would like to gratefully acknowledge Dr Carl E. Freter and Dr Michael Perry, previous contributors to this topic.
Disclosures
CEF and MP declare that they have no competing interests.
Peer reviewers
Alan Neville, MD
Professor
Assistant Dean
Undergraduate Program
McMaster University
Hamilton
Ontario
Canada
Disclosures
AN declares that he has no competing interests.
Gianfilippo Bertelli, MD, PhD, FRCP (Edin)
Consultant
Honorary Senior Lecturer in Medical Oncology
South West Wales Cancer Centre
Swansea
UK
Disclosures
GB has received honoraria for participation in advisory boards (AstraZeneca, Novartis, Pfizer, Roche, GSK, Cephalon, Amgen, Sanofi, Aventis), speaker's fees (AstraZeneca, Novartis, Sanofi, Aventis), and hospitality at conferences (AstraZeneca, Novartis, Pfizer, Roche, Aventis).
Christos Vaklavas, MD
Assistant Professor
Division of Hematology/Oncology
Department of Medicine
University of Alabama at Birmingham
Birmingham
AL
Disclosures
CV declares that University of Alabama at Birmingham has received research support from Pfizer, F. Hoffmann-La Roche, and Incyte.
Use of this content is subject to our disclaimer