info:eu-repo/semantics/article
Pitfalls in the diagnosis of biallelic PMS2 mutations
Fecha
2015-09Registro en:
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
Autor
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
Resumen
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.