Challenges and pitfalls in HNPCC: a pedigree of an Austrian HNPCC family beyond four generations!
作者： T. Winder , A. Mündlein , K. Gasser , G. Lingg , J. Walser
DOI: 10.1007/S12254-008-0083-5
关键词:
摘要: In this study we present an Austrian family with HNPCC, which was diagnosed by clinical criteria (Amsterdam I). Subsequent to the diagnosis, genetic counselling and testing offered all members. A causal mutation detected in exon 12 of MLH1 gene determining genomic sequence. The had resulted deletion adenine nucleotide at position 1343 (c.1343delA; respective cDNA NCBI accession number: NM_000249), creating a new reading frame (p.E448fs). Within pedigree it possible, frequent colonoscopy screening, detect early-stage tumour localised coecum. Furthermore, there is evidence for anticipation. median ages diagnosis colorectal cancer decreased from 51.5 second generation 33.5 third generation.
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