Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

doi:10.1007/s10689-012-9544-4

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Article

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Familial cancer - 1 Sept 2012

Farrell Michael P, Hughes David J, Berry Ian R, Gallagher David J, Glogowski Emily A, Payne Stewart J, Kennedy Michael J, Clarke Róisín M, White Susan A, Muldoon Cian B, Macdonald Fiona, Rehal Pauline, Crompton Danielle, Roring Solvig, Duke Sarah T, McDevitt Trudi, Barton David E, Hodgson Shirley V, Green Andrew J, Daly Peter A

Abstract excerpt

Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of the effect of missense and silent variants as deleterious or neutral is challenging. Pre-symptomatic testing for clinical use is not recommended for relatives of...

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PMID: 22773173
DOI: 10.1007/s10689-012-9544-4

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MLH1

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