BRCA1/BRCA2 Germline Mutations in Locally Recurrent Breast Cancer Patients After Lumpectomy and Radiation Therapy: Implications for Breast-Conserving Management in Patients With BRCA1/BRCA2 Mutation
Bruce C. Turner, Elizabeth Harrold, Ellen Matloff, et. al.
Abramson Cancer Center of the University of Pennsylvania
Last Modified: November 1, 2001
Reviewers: Li Liu, MD
Source: Journal of Clinical Oncology, Volume 17, No 10:3017-3024, October 1999.
For women with early stage breast cancer, lumpectomy followed by radiation therapy (LRT) has been an acceptable standard of care. Much effort has been made to identify a subgroup of patients who are at higher risk for ipsilateral breast tumor recurrence (IBTR). Turner et al. reported on the likelihood of BRCA1/BRCA2
mutations in patients with IBTR after LRT as compared with matched controls who did not have recurrences.
Fifty-two out of 112 patients with IBTR after LRT consented to participate and serve as the primary population base for the current study. The control patients were individually matched to the index patients with respect to multiple clinical and pathologic parameters.
- Of the 52 patients with IBTR, eight (15%) were found to have deleterious BRCA1 or BRCA2 mutations in comparison to only one (6.6%) of 15 matched control patients without IBTR (p=0.03).
- It appeared that the likelihood of BRCA1/2 deleterious mutations is higher in patients younger than 40 years than in matched patients without recurrence.
The authors suggested that the results in their article might be helpful in advising BRCA1/2
positive patients considering breast-conserving therapy. This is a retrospective study with only those whose tumors recur included in the analysis. The definitive conclusion may require prospective study with long follow-up.
BRCAPRO Model Underestimates BRCA1/2 Mutation Risk
Mar 21, 2014 - Use of the BRCAPRO model for assessment of the likelihood of having a germline BRCA1/BRCA2 mutation, based on age, ethnicity, and family history, may underestimate the risk of mutations, according to a study published online March 17 in the Journal of Clinical Oncology.
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