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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.

journal_name

Fam Cancer

journal_title

Familial cancer

authors

Antelo M,Milito D,Rhees J,Roca E,Barugel M,Cuatrecasas M,Moreira L,Leoz ML,Carballal S,Ocaña T,Pellisé M,Castells A,Boland CR,Goel A,Balaguer F

doi

10.1007/s10689-015-9793-0

subject

Has Abstract

pub_date

2015-09-01 00:00:00

pages

411-4

issue

3

eissn

1389-9600

issn

1573-7292

journal_volume

14

pub_type

杂志文章

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