title: Pitfalls in the diagnosis of biallelic PMS2 mutations.
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.
authors.affiliation: Oncology Section, Hospital of Gastroenterology "Dr. C. B. Udaondo", Buenos Aires, Argentina, machuantelo@hotmail.com.
authors.forename: Marina
authors.initials: M
authors.lastname: Antelo
authors.forename: Daniela
authors.initials: D
authors.lastname: Milito
authors.forename: Jennifer
authors.initials: J
authors.lastname: Rhees
authors.forename: Enrique
authors.initials: E
authors.lastname: Roca
authors.forename: Miguel
authors.initials: M
authors.lastname: Barugel
authors.forename: Miriam
authors.initials: M
authors.lastname: Cuatrecasas
authors.forename: Leticia
authors.initials: L
authors.lastname: Moreira
authors.forename: Maria Liz
authors.initials: ML
authors.lastname: Leoz
authors.forename: Sabela
authors.initials: S
authors.lastname: Carballal
authors.forename: Teresa
authors.initials: T
authors.lastname: Ocaña
authors.forename: Maria
authors.initials: M
authors.lastname: Pellisé
authors.forename: Antoni
authors.initials: A
authors.lastname: Castells
authors.forename: C Richard
authors.initials: CR
authors.lastname: Boland
authors.forename: Ajay
authors.initials: A
authors.lastname: Goel
authors.forename: Francesc
authors.initials: F
authors.lastname: Balaguer
mesh_terms: D000230:Adenocarcinoma / Q000188:drug therapy / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis / Q000379:methods*; D045643:DNA Repair Enzymes / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D000070976:Mismatch Repair Endonuclease PMS2; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000209:etiology / Q000235:genetics*; D012004:Rectal Neoplasms / Q000188:drug therapy / Q000235:genetics; D001749:Urinary Bladder Neoplasms / Q000188:drug therapy / Q000235:genetics; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes