Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://hdl.handle.net/10216/143522 |
Resumo: | E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC). |
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Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical reviewBreast cancerCDH1 geneE-cadherinGastric cancerGermline mutationsHereditary syndromeProphylactic surgeryE-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).MDPI20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/143522eng2072-669410.3390/cancers12061598Corso, GMontagna, GFigueiredo, JVecchia, CLRomario, UFFernandes, MSSeixas, SRoviello, FTrovato, CGuerini-Rocco, EFusco, NPravettoni, GPetrocchi, SRotili, AMassari, GMagnoni, FLorenzi, FBottoni, MGalimberti, VSanches, JMCalvello, MSeruca, RBonanni, Binfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-29T15:14:15Zoai:repositorio-aberto.up.pt:10216/143522Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T00:18:41.182134Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
title |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
spellingShingle |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review Corso, G Breast cancer CDH1 gene E-cadherin Gastric cancer Germline mutations Hereditary syndrome Prophylactic surgery |
title_short |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
title_full |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
title_fullStr |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
title_full_unstemmed |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
title_sort |
Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review |
author |
Corso, G |
author_facet |
Corso, G Montagna, G Figueiredo, J Vecchia, CL Romario, UF Fernandes, MS Seixas, S Roviello, F Trovato, C Guerini-Rocco, E Fusco, N Pravettoni, G Petrocchi, S Rotili, A Massari, G Magnoni, F Lorenzi, F Bottoni, M Galimberti, V Sanches, JM Calvello, M Seruca, R Bonanni, B |
author_role |
author |
author2 |
Montagna, G Figueiredo, J Vecchia, CL Romario, UF Fernandes, MS Seixas, S Roviello, F Trovato, C Guerini-Rocco, E Fusco, N Pravettoni, G Petrocchi, S Rotili, A Massari, G Magnoni, F Lorenzi, F Bottoni, M Galimberti, V Sanches, JM Calvello, M Seruca, R Bonanni, B |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Corso, G Montagna, G Figueiredo, J Vecchia, CL Romario, UF Fernandes, MS Seixas, S Roviello, F Trovato, C Guerini-Rocco, E Fusco, N Pravettoni, G Petrocchi, S Rotili, A Massari, G Magnoni, F Lorenzi, F Bottoni, M Galimberti, V Sanches, JM Calvello, M Seruca, R Bonanni, B |
dc.subject.por.fl_str_mv |
Breast cancer CDH1 gene E-cadherin Gastric cancer Germline mutations Hereditary syndrome Prophylactic surgery |
topic |
Breast cancer CDH1 gene E-cadherin Gastric cancer Germline mutations Hereditary syndrome Prophylactic surgery |
description |
E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC). |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020 2020-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://hdl.handle.net/10216/143522 |
url |
https://hdl.handle.net/10216/143522 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2072-6694 10.3390/cancers12061598 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
MDPI |
publisher.none.fl_str_mv |
MDPI |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799136105557131264 |