BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations - A Case Report and Review of the Literature

Sep 23, 2026

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Small bowel adenocarcinomas are rare and aggressive, and about one-fifth of patients have predisposing conditions, including genetic tumor syndromes. Although BRCA2 somatic and germline mutations have been reported in small bowel adenocarcinomas, direct evidence of BRCA2 inactivation in tumor tissue from BRCA2-related hereditary cancer syndrome remains limited. A 51-year-old woman with prior breast cancer developed duodeno-jejunal adenocarcinoma with lymph node metastases and later relapse, where sequencing identified biallelic BRCA2 alterations. The report supports considering BRCA2-associated hereditary syndrome in small bowel cancer patients under 50, especially with personal or family breast cancer history.

LanguageEnglish

CategoryHealthcare

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Pages7

Reading Time18 min

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Abstract

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Case Presentation

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Introduction

Cancer Reports CASE REPORT OPEN ACCESS BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature Francesca Antoci1 | Tommaso Colella2 | Elena Biletta3 | Erica Travaglino1 | Giuseppe De Lisi4 | Erica Quaquarini5 | Giovanni Arpa6 | Alberto Maria Pisacane3 | Myriam Katja Paris7 | Salvatore Corallo5 | Antonio Di Sabatino8 | Francesco Leone7 | Alessandro Vanoli1,4 1Anatomic Pathology Unit, IRCCS San Matteo Hospital Foundation, Pavia, Italy | 2University of Pavia, Pavia, Italy | 3Unit of Pathology, Department of Surgery ASL BI, Nuovo Ospedale Degli Infermi, Ponderano, Italy | 4Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy | 5Medical Oncology Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy | 6Unit of Pathology, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, Italy | 7Unit of Oncology, Department of Oncology, Ospedale Degli Infermi, Ponderano, Italy | 8First Department of Internal Medicine, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy Correspondence: Elena Biletta ([elena.biletta@aslbi.piemonte.it](elena.biletta@aslbi.piemonte.it)) | Alessandro Vanoli ([alessandro.vanoli@unipv.it](alessandro.vanoli@unipv.it)) Received: 2 October 2024 | Revised: 25 February 2025 | Accepted: 28 March 2025 Funding: The authors received no specific funding for this work. Keywords: BRCA2 | genetic tumor syndrome | small intestinal adenocarcinoma ABSTRACT Background: Small bowel adenocarcinomas (SBAs) are rare and aggressive cancers. About one-fifth of SBA patients have predisposing conditions; among them, there are also genetic tumor syndromes, including Lynch syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. Although BRCA2 mutations, both somatic and germline, have been recently described in SBAs, direct evidence of BRCA2 inactivation in SBA tumor tissue of patients with BRCA2-related hereditary cancer syndrome is still very limited. Case Presentation: Herein, we described a case of a 51-year-old woman with a history of breast cancer who developed an adenocarcinoma of the duodeno-jejunal flexure causing persistent vomiting. After clinical staging, the patient underwent surgical resection, and histologic examination of the specimen confirmed a poorly differentiated adenocarcinoma infiltrating the visceral peritoneum and showing lymph node metastases (stage III, pT4N1) . Two years later, the SBA relapsed, and next generation sequencing was performed in matched tumor and normal tissues. In addition to KRAS and TP53 mutations in the tumor, both somatic and germline BRCA2 mutations were identified, indicating biallelic BRCA2 alterations. Conclusion: BRCA2-associated hereditary tumor syndrome could have an etio-pathogenetic role in SBA development; thus, we suggest that this syndrome should be considered in patients with an SBA diagnosis below the age of 50 years, especially when a personal or family history of breast cancer is present. 1 | Introduction Small bowel adenocarcinomas (SBAs) are rare cancers; however, their incidence is increasing, especially in the duodenal site. SBAs have a worse prognosis compared to colorectal cancers in all stages, and they are more often diagnosed at an advanced stage [1–3] . Risk factors for SBA include genetic tumor syndromes, immune-related disorders, including Crohn disease | Francesca Antoci and Tommaso Colella are co-first authors. | | --- | | This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
© 2025 The Author(s). Cancer Reports published by Wiley Periodicals LLC. | Cancer Reports, 2025; 8:e70200 1 of 7 [https://doi.org/10.1002/cnr2.70200](https://doi.org/10.1002/cnr2.70200) and celiac disease, as well as lifestyle factors, suc

FAQs

Why are small bowel adenocarcinomas important in this report?

They are described as rare and aggressive cancers whose incidence is increasing, with many cases having predisposing conditions such as genetic tumor syndromes.

What did sequencing reveal in the patient’s tumor and normal tissues?

In addition to KRAS and TP53 mutations in the tumor, both somatic and germline BRCA2 mutations were identified, indicating biallelic BRCA2 alterations.

Who should be considered for BRCA2-associated hereditary tumor syndrome screening according to the conclusion?

Patients with small bowel adenocarcinoma diagnosed below age 50 should be considered, particularly when there is a personal or family history of breast cancer.

Sep 23, 2026

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