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Annals of Surgical Oncology

27-09-2024 | Breast Cancer | Breast Oncology

The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer

Authors: Mahtab Vasigh, MD, Ahmed Mohamed, MD, Lisa Jacobs, MD, Julie Lange, MD, Melissa Camp, MD, Bonnie Sun, MD, Pamela Wright, MD, Maureen O’Donnell, MD, Hanh-Tam Tran, MD, Olutayo Sogunro, DO, Mehran Habibi, MD, Fabian Johnston, MD, David Euhus, MD

Published in: Annals of Surgical Oncology

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Abstract

Background

Breast-conserving surgery is often discouraged in BRCA gene carriers with early onset breast cancer. The genetic variant carrier breast cancers are more likely to be multifocal or multicentric (MFMC).

Patients and Method

This retrospective study includes newly diagnosed patients with breast cancer undergoing genetic testing between 2010 and 2021 within the Johns Hopkins Regional Health System. After excluding patients who received neoadjuvant chemotherapy or stage IV breast cancers, patients were divided into two groups: those who tested positive for a variant recognized by the National Comprehensive Cancer Network as predisposing the patient to breast cancer (ATM, BRCA1, BRCA2, CHEK2, NF1, PALB2, RAD51C, RAD51D, and TP53) and those who tested negative. Pathologic features of the tumors were compared, focusing on evidence for MFMC disease, defined as more than one malignant foci more than 5 mm apart.

Results

Among the 282 eligible cases, 69 (24%) were positive for a genetic variant. The variant carriers were younger at diagnosis (p < 0.001), more likely to have invasive ductal carcinoma (p = 0.03), more likely to have undergone mastectomy (p = 0.03), and more likely to have a grade 3 cancer (p = 0.003). Variant carriers were not more likely to have MFMC disease (28% vs. 22%, p = 0.4). A positive genetic variant was not a predictor of MFMC within the entire cohort [odds ratio (OR):1.3, 95% confidence interval (CI) 0.6–2.6, p = 0.5).

Conclusion

Genetic variant carrier cancers are not more likely to be MCMF than sporadic cancers.
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Metadata
Title
The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer
Authors
Mahtab Vasigh, MD
Ahmed Mohamed, MD
Lisa Jacobs, MD
Julie Lange, MD
Melissa Camp, MD
Bonnie Sun, MD
Pamela Wright, MD
Maureen O’Donnell, MD
Hanh-Tam Tran, MD
Olutayo Sogunro, DO
Mehran Habibi, MD
Fabian Johnston, MD
David Euhus, MD
Publication date
27-09-2024
Publisher
Springer International Publishing
Published in
Annals of Surgical Oncology
Print ISSN: 1068-9265
Electronic ISSN: 1534-4681
DOI
https://doi.org/10.1245/s10434-024-16243-3
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