Pitfalls in the diagnosis of biallelic PMS2 mutations

Familial Cancer
Marina AnteloFrancesc Balaguer

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.

References

Apr 18, 2006·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Mark A JenkinsMelissa C Southey
Apr 19, 2006·Human Mutation·Mark ClendenningAlbert de la Chapelle
Apr 19, 2007·Cancer·Jan-Werner PoleyUNKNOWN Rotterdam Initiative on Gastrointestinal Hereditary Tumors
Jul 8, 2008·Gastroenterology·Leigha SenterAlbert de la Chapelle
Mar 8, 2011·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Johanna C HerkertRolf H Sijmons

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Citations

Jan 5, 2019·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Andrew Y ShuenChristopher E Pearson
Jan 30, 2019·International Journal of Cancer. Journal International Du Cancer·Marina AnteloFrancesc Balaguer

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