Pitfalls in the diagnosis of biallelic PMS2 mutations

Autores
Antelo, Marina; Milito, Daniela; Rhees, Jennifer; Roca, Enrique; Barugel, Miguel; Cuatrecasas, Miriam; Moreira, Leticia; Leoz, Maria Liz; Carballal, Sabela; Ocaña, Teresa; Pellisé, Maria; Castells, Antoni; Boland, C. Richard; Goel, Ajay; Balaguer, Francesc
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as café-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.
Fil: Antelo, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Milito, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Rhees, Jennifer. Baylor University Medical Center; Estados Unidos
Fil: Roca, Enrique. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Barugel, Miguel. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Cuatrecasas, Miriam. Universidad de Barcelona; España
Fil: Moreira, Leticia. Universidad de Barcelona; España
Fil: Leoz, Maria Liz. Universidad de Barcelona; España
Fil: Carballal, Sabela. Universidad de Barcelona; España
Fil: Ocaña, Teresa. Universidad de Barcelona; España
Fil: Pellisé, Maria. Universidad de Barcelona; España
Fil: Castells, Antoni. Universidad de Barcelona; España
Fil: Boland, C. Richard. Baylor University Medical Center; Estados Unidos
Fil: Goel, Ajay. Baylor Research Institute;
Fil: Balaguer, Francesc. Universidad de Barcelona; España
Materia
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
EARLY-ONSET COLORECTAL CANCER
LYNCH SYNDROME
PMS2
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/94530
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/94530
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Pitfalls in the diagnosis of biallelic PMS2 mutationsAntelo, MarinaMilito, DanielaRhees, JenniferRoca, EnriqueBarugel, MiguelCuatrecasas, MiriamMoreira, LeticiaLeoz, Maria LizCarballal, SabelaOcaña, TeresaPellisé, MariaCastells, AntoniBoland, C. RichardGoel, AjayBalaguer, FrancescCONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROMEEARLY-ONSET COLORECTAL CANCERLYNCH SYNDROMEPMS2https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as café-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.Fil: Antelo, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Milito, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Rhees, Jennifer. Baylor University Medical Center; Estados UnidosFil: Roca, Enrique. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Barugel, Miguel. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Cuatrecasas, Miriam. Universidad de Barcelona; EspañaFil: Moreira, Leticia. Universidad de Barcelona; EspañaFil: Leoz, Maria Liz. Universidad de Barcelona; EspañaFil: Carballal, Sabela. Universidad de Barcelona; EspañaFil: Ocaña, Teresa. Universidad de Barcelona; EspañaFil: Pellisé, Maria. Universidad de Barcelona; EspañaFil: Castells, Antoni. Universidad de Barcelona; EspañaFil: Boland, C. Richard. Baylor University Medical Center; Estados UnidosFil: Goel, Ajay. Baylor Research Institute; Fil: Balaguer, Francesc. Universidad de Barcelona; EspañaSpringer2015-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/94530Antelo, Marina; Milito, Daniela; Rhees, Jennifer; Roca, Enrique; Barugel, Miguel; et al.; Pitfalls in the diagnosis of biallelic PMS2 mutations; Springer; Familial Cancer; 14; 3; 9-2015; 411-4141389-9600CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007%2Fs10689-015-9793-0#/page-1info:eu-repo/semantics/altIdentifier/doi/10.1007/s10689-015-9793-0info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:57:31Zoai:ri.conicet.gov.ar:11336/94530instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:57:31.533CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Pitfalls in the diagnosis of biallelic PMS2 mutations
title Pitfalls in the diagnosis of biallelic PMS2 mutations
spellingShingle Pitfalls in the diagnosis of biallelic PMS2 mutations
Antelo, Marina
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
EARLY-ONSET COLORECTAL CANCER
LYNCH SYNDROME
PMS2
title_short Pitfalls in the diagnosis of biallelic PMS2 mutations
title_full Pitfalls in the diagnosis of biallelic PMS2 mutations
title_fullStr Pitfalls in the diagnosis of biallelic PMS2 mutations
title_full_unstemmed Pitfalls in the diagnosis of biallelic PMS2 mutations
title_sort Pitfalls in the diagnosis of biallelic PMS2 mutations
dc.creator.none.fl_str_mv Antelo, Marina
Milito, Daniela
Rhees, Jennifer
Roca, Enrique
Barugel, Miguel
Cuatrecasas, Miriam
Moreira, Leticia
Leoz, Maria Liz
Carballal, Sabela
Ocaña, Teresa
Pellisé, Maria
Castells, Antoni
Boland, C. Richard
Goel, Ajay
Balaguer, Francesc
author Antelo, Marina
author_facet Antelo, Marina
Milito, Daniela
Rhees, Jennifer
Roca, Enrique
Barugel, Miguel
Cuatrecasas, Miriam
Moreira, Leticia
Leoz, Maria Liz
Carballal, Sabela
Ocaña, Teresa
Pellisé, Maria
Castells, Antoni
Boland, C. Richard
Goel, Ajay
Balaguer, Francesc
author_role author
author2 Milito, Daniela
Rhees, Jennifer
Roca, Enrique
Barugel, Miguel
Cuatrecasas, Miriam
Moreira, Leticia
Leoz, Maria Liz
Carballal, Sabela
Ocaña, Teresa
Pellisé, Maria
Castells, Antoni
Boland, C. Richard
Goel, Ajay
Balaguer, Francesc
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
EARLY-ONSET COLORECTAL CANCER
LYNCH SYNDROME
PMS2
topic CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
EARLY-ONSET COLORECTAL CANCER
LYNCH SYNDROME
PMS2
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as café-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.
Fil: Antelo, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Milito, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Rhees, Jennifer. Baylor University Medical Center; Estados Unidos
Fil: Roca, Enrique. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Barugel, Miguel. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
Fil: Cuatrecasas, Miriam. Universidad de Barcelona; España
Fil: Moreira, Leticia. Universidad de Barcelona; España
Fil: Leoz, Maria Liz. Universidad de Barcelona; España
Fil: Carballal, Sabela. Universidad de Barcelona; España
Fil: Ocaña, Teresa. Universidad de Barcelona; España
Fil: Pellisé, Maria. Universidad de Barcelona; España
Fil: Castells, Antoni. Universidad de Barcelona; España
Fil: Boland, C. Richard. Baylor University Medical Center; Estados Unidos
Fil: Goel, Ajay. Baylor Research Institute;
Fil: Balaguer, Francesc. Universidad de Barcelona; España
description Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as café-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.
publishDate 2015
dc.date.none.fl_str_mv 2015-09
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/94530
Antelo, Marina; Milito, Daniela; Rhees, Jennifer; Roca, Enrique; Barugel, Miguel; et al.; Pitfalls in the diagnosis of biallelic PMS2 mutations; Springer; Familial Cancer; 14; 3; 9-2015; 411-414
1389-9600
CONICET Digital
CONICET
url http://hdl.handle.net/11336/94530
identifier_str_mv Antelo, Marina; Milito, Daniela; Rhees, Jennifer; Roca, Enrique; Barugel, Miguel; et al.; Pitfalls in the diagnosis of biallelic PMS2 mutations; Springer; Familial Cancer; 14; 3; 9-2015; 411-414
1389-9600
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007%2Fs10689-015-9793-0#/page-1
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10689-015-9793-0
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269466353729536
score 13.13397

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