dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Sánchez, Ariadna |
dc.contributor.author | Bofill, Alex |
dc.contributor.author | Alvarez-Urturi, Cristina |
dc.contributor.author | Hernandez, Goretti |
dc.contributor.author | Bujanda, Luis |
dc.contributor.author | Cuatrecasas, Miriam |
dc.contributor.author | Aguilera Castro, Lara |
dc.date.accessioned | 2022-06-07T07:48:18Z |
dc.date.available | 2022-06-07T07:48:18Z |
dc.date.issued | 2021-12-20 |
dc.identifier.citation | Sánchez A, Bujanda L, Cuatrecasas M, Bofill A, Alvarez-Urturi C, Hernandez G, et al. Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma. Cancers. 2021 Dec 20;13(24):6378. |
dc.identifier.issn | 2072-6694 |
dc.identifier.uri | https://hdl.handle.net/11351/7629 |
dc.description | Lynch syndrome; Hereditary cancer; Small bowel adenocarcinoma |
dc.description.abstract | Background: Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas. Methods: A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors. Results: A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%. Conclusions: More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families. |
dc.language.iso | eng |
dc.publisher | MDPI |
dc.relation.ispartofseries | Cancers;13(24) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties rares - Diagnòstic |
dc.subject | Adenocarcinoma |
dc.subject | Malalties congènites |
dc.subject.mesh | Colorectal Neoplasms, Hereditary Nonpolyposis |
dc.subject.mesh | Adenocarcinoma |
dc.subject.mesh | Rare Diseases |
dc.title | Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3390/cancers13246378 |
dc.subject.decs | neoplasias colorrectales hereditarias sin poliposis |
dc.subject.decs | adenocarcinoma |
dc.subject.decs | enfermedades raras |
dc.relation.publishversion | https://doi.org/10.3390/cancers13246378 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Sánchez A, Bofill A] Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, Barcelona, Spain. [Bujanda L] Department of Gastroenterology, Biodonostia Health Research Institute, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), Universidad del País Vasco (UPV/EHU), San Sebastián, Spain. [Cuatrecasas M] Department of Pathology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, Barcelona, Spain. [Alvarez-Urturi C] Department of Gastroenterology, IMIM (Hospital del Mar Medical Research Institute), Barcelona Hospital del Mar, Barcelona, Spain. [Hernandez G] Department of Gastroenterology, Hospital Universitario de Canarias, Tenerife, Spain. [Aguilera L] Servei de Gastroenterologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 34944998 |
dc.identifier.wos | 000736043200001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |