A role for MLH3 in hereditary nonpolyposis colorectal cancer.

Wu, Y; Berends, M J; Sijmons, R H; Mensink, R G; Verlind, E; Kooi, K A; van der Sluis, T; Kempinga, C; van dDer Zee, A G; Hollema, H; Buys, C H; Kleibeuker, J H; Hofstra, R M

Wu, Y; Berends, M J; Sijmons, R H; Mensink, R G; Verlind, E; Kooi, K A; van der Sluis, T; Kempinga, C; van dDer Zee, A G; Hollema, H; Buys, C H; Kleibeuker, J H; Hofstra, R M.

Afiliação

Wu Y; Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.

Nat Genet ; 29(2): 137-8, 2001 Oct.

Article em En | MEDLINE | ID: mdl-11586295

ABSTRACT

ABSTRACT

We investigated a possible role of the mismatch-repair gene MLH3 in hereditary nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 patients suspected of having HNPCC. We identified ten different germline MLH3 variants, one frameshift and nine missense mutations, in 12 patients suspected of HNPCC. Three of the 12 also carried a mutation in MSH6.

Assuntos

Proteínas de Transporte/genética; Neoplasias Colorretais Hereditárias sem Polipose/genética; Sequência de Bases; DNA; Reparo do DNA/genética; Marcadores Genéticos; Humanos; Proteínas MutL; Mutação

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Neoplasias Colorretais Hereditárias sem Polipose Limite: Humans Idioma: En Ano de publicação: 2001 Tipo de documento: Article

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