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Case Report
A case of a male BRCA2 mutation carrier with gastric adenocarcinoma with signet ring cells
1 Resident, Department of General Surgery, Centro Hospitalar Universitário de São João, Oporto, Portugal
2 Chief of Surgery, Director of Central Operation Room, Department of General Surgery, Centro Hospitalar Universitário de São João, Oporto, Portugal
3 Graduated Assistent of Surgery, Director of General Surgery, Department of General Surgery, Centro Hospitalar Universitário de São João, Oporto, Portugal
4 Chief of Surgery, Responsible of the Esophageal and Gastric Surgery Unit, Department of General Surgery, Centro Hospitalar Universitário de São João, Oporto, Portugal
Address correspondence to:
Vítor Devezas
UAG Cirurgia – Serviço de Cirurgia Geral. Alameda Prof. Hernâni Monteiro, 4200-319, Porto,
Portugal
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Article ID: 101031Z01VD2019
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Devezas V, Carneiro S, Barbosa LE, Barbosa JA. A case of a male BRCA2 mutation carrier with gastric adenocarcinoma with signet ring cells. Int J Case Rep Images 2019;10:101031Z01VD2019.ABSTRACT
Introduction: BRCA1 and BRCA2 are tumor suppressor genes with an autosomal dominant inheritance. Germline mutations of BRCA2 have more impact on men than on women. An increased risk of cancer of breast, prostate, pancreas, uveal melanoma, as well as gastric and esophageal cancer is associated with BRCA2 mutations.
Case Report: We present a case of a middle-aged male, who was on follow-up because of a BRCA2 mutation and a familial history of many neoplasia. During the follow-up, the patient presented nonspecific symptoms of gastric malaise. The upper endoscopy revealed an ulcerated lesion at the incisura angularis, which on pathologic report revealed an adenocarcinoma with signet ring cells.
Conclusion: There is growing evidence that BRCA2 mutations increase the risk of gastric cancer, especially in men. Surveillance endoscopic programs directed to families with these mutations should be considered to diagnose early-stage gastric cancer.
Keywords: BRCA2, Carcinoma, Endoscopy, Gastrectomy, Genes, Signet ring cell, Stomach neoplasms
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Author Contributions
Vítor Devezas - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Silvestre Carneiro - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Laura Elisabete Barbosa - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
José A Barbosa - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2019 Vítor Devezas et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
