Article
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2011
Pinheiro Manuela, Pinto Carla, Peixoto Ana, Veiga Isabel, Mesquita Bárbara, Henrique Rui, Baptista Manuela, Fragoso Maria, Sousa Olga, Pereira Helena, Marinho Carla, Moreira Dias Luis, Teixeira Manuel R
Abstract excerpt
PURPOSE: Although Lynch syndrome is characterized by marked genetic heterogeneity, some specific mutations are observed at high frequency in well-defined populations or ethnic groups due to founder effects. METHODS: Genomic breakpoint identification, haplotype analysis, and mutation age determination were performed in 14 unrelated patients and 95 family members presenting the same MLH1 exonic rearrangement, among...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.