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International Medical Case Reports Journal Volume 17, 2024 - Issue
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Case reports

BRCA2, PALB2, RECQL4 Germline Pathogenic Variants, and Somatic TP53 Mutation in Triple Metachronous Malignancies: A Case Report and Literature Review

Yang Liu1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Hui Yang1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Xueshu Fu1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Luting Zhong1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Ping Xu1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Fang Fang1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Ying Liu1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Qing Li1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Ya’nan Yan1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Shanchuang Wei1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
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Junqing Wang1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of ChinaView further author information
&
Chunhua Zhang1 Department of Gynaecology, Affiliated Hospital of YangZhou University Huai ‘an Maternal and Child Health Care Center, Huai’an, Jiangsu, People’s Republic of China;2 Department of Gynaecology, The Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, Jiangsu, People’s Republic of China;3 Department of Integrated Traditional Chinese & Western Clinical Medicine, Macau University of Science and Technology, Macau, People’s Republic of ChinaCorrespondence[email protected]
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Pages 23-29 | Received 30 Oct 2023, Accepted 30 Dec 2023, Published online: 09 Jan 2024
 
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Abstract

Background

Multiple primary cancer (MPC) refers to the presence of more than one cancer in an individual. Triple primary malignancies are uncommon.

Case

We report the case of a 50-year-old postmenopausal woman in our gynecology department, diagnosed with endometrial cancer, ovarian cancer, and unilateral breast cancer. She carried germline mutations in BRCA2, PALB2, and RECQL4, along with a somatic pathogenic variant in TP53. Endometrial cancer patients harboring germline pathogenic variants in BRCA2 exhibit a heightened risk of ovarian and breast cancer. BRCA2 is known to play a role in the development of ovarian and breast cancer, while PALB2 is identified as a gene associated with breast cancer susceptibility. RECQL4 has been linked to breast cancer, cervical cancer, and other tumors.

Conclusion

Genetic testing may be imperative for identifying MPC in endometrial cancer patients. For individuals with BRCA2 and other gene pathogenic variants, routine examination and monitoring of the endometrium, ovaries, breasts, and other sites prone to polygenic cancer are recommended.

Institutional Review Board Statement

The study was conducted in accordance with the Declaration of Helsinki. Ethical review and approval were waived for this study as it was a single case report.

Data Sharing Statement

No new data were created or analyzed in this study. Data sharing is not applicable to this article.

Informed Consent Statement

We have obtained the written informed consent from the patient for publication of this case report and any accompanying images. No institutional approval is required to publish case details.

Author Contributions

All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis and interpretation, or in all there areas; took part in drafting, revising or critically reviewing the article; gave final approval of the version to be published; have agreed on the journal to which the article has been submitted; and agree to be accountable for all aspects of the work.

Disclosure

The authors declare no conflict of interest.

Additional information

Funding

This research received no external funding.
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