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dc.contributor.author
Antelo, Marina
dc.contributor.author
Milito, Daniela
dc.contributor.author
Rhees, Jennifer
dc.contributor.author
Roca, Enrique
dc.contributor.author
Barugel, Miguel
dc.contributor.author
Cuatrecasas, Miriam
dc.contributor.author
Moreira, Leticia
dc.contributor.author
Leoz, Maria Liz
dc.contributor.author
Carballal, Sabela
dc.contributor.author
Ocaña, Teresa
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Pellisé, Maria
dc.contributor.author
Castells, Antoni
dc.contributor.author
Boland, C. Richard
dc.contributor.author
Goel, Ajay
dc.contributor.author
Balaguer, Francesc
dc.date.available
2020-01-13T18:48:23Z
dc.date.issued
2015-09
dc.identifier.citation
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
dc.identifier.issn
1389-9600
dc.identifier.uri
http://hdl.handle.net/11336/94530
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Springer
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
dc.subject
EARLY-ONSET COLORECTAL CANCER
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LYNCH SYNDROME
dc.subject
PMS2
dc.subject.classification
Oncología
dc.subject.classification
Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Pitfalls in the diagnosis of biallelic PMS2 mutations
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-12-27T14:04:24Z
dc.journal.volume
14
dc.journal.number
3
dc.journal.pagination
411-414
dc.journal.pais
Alemania
dc.journal.ciudad
Berlin
dc.description.fil
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
dc.description.fil
Fil: Milito, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
dc.description.fil
Fil: Rhees, Jennifer. Baylor University Medical Center; Estados Unidos
dc.description.fil
Fil: Roca, Enrique. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
dc.description.fil
Fil: Barugel, Miguel. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
dc.description.fil
Fil: Cuatrecasas, Miriam. Universidad de Barcelona; España
dc.description.fil
Fil: Moreira, Leticia. Universidad de Barcelona; España
dc.description.fil
Fil: Leoz, Maria Liz. Universidad de Barcelona; España
dc.description.fil
Fil: Carballal, Sabela. Universidad de Barcelona; España
dc.description.fil
Fil: Ocaña, Teresa. Universidad de Barcelona; España
dc.description.fil
Fil: Pellisé, Maria. Universidad de Barcelona; España
dc.description.fil
Fil: Castells, Antoni. Universidad de Barcelona; España
dc.description.fil
Fil: Boland, C. Richard. Baylor University Medical Center; Estados Unidos
dc.description.fil
Fil: Goel, Ajay. Baylor Research Institute;
dc.description.fil
Fil: Balaguer, Francesc. Universidad de Barcelona; España
dc.journal.title
Familial Cancer
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007%2Fs10689-015-9793-0#/page-1
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1007/s10689-015-9793-0
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