Clinical Impact of Constitutional Genomic Testing on Current Breast Cancer Care
W Cheah1, R I Cutress1, D Eccles1
1Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, University Hospital Southampton, Southampton SO16 6YD, UK.
Clinical Oncology (Royal College of Radiologists (Great Britain))
|September 6, 2024
Summary
Genetic mutations significantly increase breast cancer risk. This review details key breast cancer predisposition genes, their functions, risks, and management strategies for improved patient outcomes.
Area of Science:
- Genetics
- Oncology
- Genomic Medicine
Background:
- Breast cancer is the most common cancer in women globally.
- Familial cases are linked to mutations in high-penetrance (BRCA1, BRCA2, TP53, PALB2) and moderate-penetrance (CHEK2, ATM, RAD51C, RAD51D) genes, often involved in DNA repair.
- Increased genetic testing reveals more high-risk mutation carriers, but clinical application is limited by incomplete data.
Purpose of the Study:
- To review key functions, risks, and prognosis of breast cancer predisposition genes.
- To provide an update on current management implications for inherited breast cancer.
- To inform clinical application of genetic testing for breast cancer risk.
Main Methods:
- Literature review of breast cancer predisposition genes.
- Summary of gene functions, associated risks, and prognosis.
- Analysis of current management strategies including surgery, radiotherapy, and systemic treatments.
Main Results:
- Identified high- and moderate-penetrance genes associated with inherited breast cancer.
- Highlighted the role of these genes in DNA damage repair pathways.
- Emphasized the need for more clinical outcome data, especially for moderate-risk genes.
Conclusions:
- Understanding breast cancer predisposition genes is crucial for risk assessment and treatment.
- Advances in genetic testing increase detection but require further clinical validation.
- Comprehensive management strategies are essential for patients with inherited breast cancer risk.
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