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Article

Evaluation of MLH1 variants of unclear significance.

Genes, chromosomes & cancer - 1 Jul 2018

Köger Nicole, Paulsen Lea, López-Kostner Francisco, Della Valle Adriana, Vaccaro Carlos Alberto, Palmero Edenir Inêz, Alvarez Karin, Sarroca Carlos, Neffa Florencia, Kalfayan Pablo German, Gonzalez Maria Laura, Rossi Benedito Mauro, Reis Rui Manuel, Brieger Angela, Zeuzem Stefan, Hinrichsen Inga, Dominguez-Valentin Mev, Plotz Guido

Abstract excerpt

Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln, p.Pro141Ala, p.Arg265Pro, p.Asn338Ser, p.Ile501del, p.Arg575Lys, p.Lys618del, p.Leu676Pro), and evidence of...

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Identifiers

PMID: 29520894
DOI: 10.1002/gcc.22536

Genes

MLH1

Variants

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