A Rare Case of Triple-Negative Breast Cancer with RAD51D Gene Mutation

Annie Monica Ch (1), Rithwik Goud Burri (2), Sriharsha Lankala (3), Jun Yi Lim (4), Altynai Zhumabekova (5)
(1) Maheshwara Medical College and Hospital, Hyderabad, Telangana, India, India,
(2) Maheshwara Medical College and Hospital, Hyderabad, Telangana, India, India,
(3) Maheshwara Medical College and Hospital, Hyderabad, Telangana, India, India,
(4) I.K. Akhunbaev Kyrgyz State Medical Academy, Bishkek, Kyrgyzstan, Kyrgyzstan,
(5) City Maternity Hospital No. 2, Bishkek, Kyrgyzstan, Kyrgyzstan

Abstract

Background: The heterogeneity of breast cancer (BC) subtypes poses a significant challenge, with carcinogenesis involving multiple stages and genes, including proto-oncogenes, tumor suppressor genes, and DNA repair genes. Next-generation sequencing has expanded access to multigene panels, such as RAD51 paralogs, which increase the risk of ovarian cancer and possibly triple-negative (TN) BC.


Case presentation: We present a rare case of a 45-year-old woman with TNBC and a RAD51D gene mutation. Mammography and breast ultrasonography revealed an irregular, 30 mm hypoechoic area and dystrophic calcifications in the right breast. Immunohistochemistry showed a lack of expression of ER, RP, HER-2, and P53, with 50% of neoplastic cell nuclei positive for Ki-67. Next-generation sequencing revealed a mutation in RAD51D and MUYTH genes. The patient underwent partial mastectomy, chemotherapy, and prophylactic mastectomy.


Conclusion: Genetic analysis is crucial for identifying specific mutations contributing to TNBC development. Current preventive interventions primarily address BRCA1 and BRCA2 mutations, following established guidelines.

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Authors

Annie Monica Ch
Rithwik Goud Burri
Sriharsha Lankala
Jun Yi Lim
Altynai Zhumabekova
altynai.zhm@gmail.com (Primary Contact)
Author Biographies

Annie Monica Ch, Maheshwara Medical College and Hospital, Hyderabad, Telangana, India

Department of General Medicine

Rithwik Goud Burri, Maheshwara Medical College and Hospital, Hyderabad, Telangana, India

Department of General Medicine

Sriharsha Lankala, Maheshwara Medical College and Hospital, Hyderabad, Telangana, India

Department of General Medicine

Jun Yi Lim, I.K. Akhunbaev Kyrgyz State Medical Academy, Bishkek, Kyrgyzstan

Department of General Medicine

Altynai Zhumabekova, City Maternity Hospital No. 2, Bishkek, Kyrgyzstan

Obstetrician-Gynecologist

 

1.
Ch AM, Burri RG, Lankala S, Lim JY, Zhumabekova A. A Rare Case of Triple-Negative Breast Cancer with RAD51D Gene Mutation. Arch Breast Cancer [Internet]. [cited 2024 Oct. 3];11(4). Available from: https://www.archbreastcancer.com/index.php/abc/article/view/972

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