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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

✍ Scribed by Brea-Fernández, A.J.; Cameselle-Teijeiro, J.M.; Alenda, C.; Fernández-Rozadilla, C.; Cubiella, J.; Clofent, J.; Reñé, J.M.; Anido, U.; Milá, M.; Balaguer, F.; Castells, A.; Castellvi-Bel, S.; Jover, R.; Carracedo, A.; Ruiz-Ponte, C.


Book ID
120532846
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
203 KB
Volume
85
Category
Article
ISSN
0009-9163

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Lynch syndrome is one of the most common autosomal dominantly inherited cancer syndromes. Mutations in MLH1, MSH2, MSH6, and PMS2 account for greater than 98% of reported mutations in Lynch syndrome families. It has been reported that large genomic deletions in MLH1 and MSH2 are a frequent cause of