A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.
Indian J Cancer
; 55(4): 410-412, 2018.
Article
em En
| MEDLINE
| ID: mdl-30829280
ABSTRACT
A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. Immunohistochemistry showed negative expression of PMS2 and MLH1 in the resected tumor sample. The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adenocarcinoma
/
Neoplasias Colorretais Hereditárias sem Polipose
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Mutação da Fase de Leitura
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Colo
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Neoplasias do Colo
/
Proteína 1 Homóloga a MutL
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Indian J Cancer
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Nepal