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Case ReportCASE REPORTS AND CLINICAL OBSERVATIONS
Open Access

Male Breast Cancer With Dual BRCA2 and BRIP1 Deleterious Gene Mutations

Shivani B. Badve, Emily Kim, Udai S. Sibia, Orestes T. Borrego, Stephen Vara, Alexander Damron and Adam I. Riker
Ochsner Journal June 2024, 24 (2) 157-161; DOI: https://doi.org/10.31486/toj.23.0119
Shivani B. Badve
1Department of Surgery, Luminis Health, Annapolis, MD
MD
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Emily Kim
2Loyola University Chicago, Chicago, IL
BS
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Udai S. Sibia
3Saint John's Cancer Institute, Santa Monica, CA
MD
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Orestes T. Borrego
4Department of Pathology, AmeriPath, Fort Myers, FL
MD
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Stephen Vara
5Department of Medical Oncology, Florida Cancer Specialists & Research Institute, Port Charlotte, FL
MD
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Alexander Damron
4Department of Pathology, AmeriPath, Fort Myers, FL
MD
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Adam I. Riker
6Precision Healthcare Specialists, Naples FL
MD, FSSO, FACS
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  • For correspondence: ariker1234{at}gmail.com
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    Figure 1.

    At the patient's initial clinic visit, the mass was palpable in the left breast under the nipple-areolar complex.

  • Figure 2.
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    Figure 2.

    Hematoxylin and eosin–stained sections from patient pathology. (A) Infiltrating ductal carcinoma had a predominant solid sheet-like and nested growth pattern lacking tubule formation. No significant lymphocytic infiltrate was associated with the invasive carcinoma. (B) Frequent mitotic activity was noted (red arrows). The tumor showed up to 18 mitoses per 10 high-power fields and also displayed grade 2 to 3 nuclear pleomorphism with cancer cells of varying sizes and shapes displaying prominent nucleoli and irregularly shaped nuclei (black circles). The tumor was classified as Nottingham grade 3. (C) Infiltrating ductal carcinoma (black arrow) surrounded the erector pili muscles (red arrow) of the nipple dermis. There was no epidermal involvement and no associated ulceration. The dermal invasion did not impact the American Joint Committee on Cancer pathologic T stage of this cancer. (D) Axillary lymph node showed metastatic carcinoma (red arrow) with a similar morphology to the tumor cells in the breast, consistent with metastasis from the patient's known breast primary.

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    Figure 3.

    (A) Biomarker studies showed the tumor cells to be strongly positive for estrogen receptor protein in 100% of the tumor cells and (B) progesterone receptor protein in 95% of the tumor cells. (C) Human epidermal growth factor receptor-2 (HER2) immunohistochemistry showed weak (score 1+) staining with moderate (2+) staining in <10% of the tumor cells. (D) HER2 in situ hybridization showed negative (nonamplified) results with a HER2/CEP17 (chromosome enumeration probe 17) ratio of 0.9.

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Ochsner Journal: 24 (2)
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Male Breast Cancer With Dual BRCA2 and BRIP1 Deleterious Gene Mutations
Shivani B. Badve, Emily Kim, Udai S. Sibia, Orestes T. Borrego, Stephen Vara, Alexander Damron, Adam I. Riker
Ochsner Journal Jun 2024, 24 (2) 157-161; DOI: 10.31486/toj.23.0119

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Male Breast Cancer With Dual BRCA2 and BRIP1 Deleterious Gene Mutations
Shivani B. Badve, Emily Kim, Udai S. Sibia, Orestes T. Borrego, Stephen Vara, Alexander Damron, Adam I. Riker
Ochsner Journal Jun 2024, 24 (2) 157-161; DOI: 10.31486/toj.23.0119
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Keywords

  • Breast neoplasms–male
  • genes–BRCA2
  • genes–neoplasm

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