Article
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.
Clinical genetics - 1 Sept 2013
Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias L M, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans D G, Farrington S, Dunlop M G, Teixeira M R
Abstract excerpt
The MSH2 c.388_389del mutation has occasionally been described in Lynch families worldwide. At the Portuguese Oncology Institute in Porto, Portugal, we have identified 16 seemingly unrelated families with this germline mutation. To evaluate if this alteration is a founder or a recurrent mutation we performed haplotype analysis in the 16 Portuguese index cases and 55 relatives, as well as in four index cases and...
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