A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study / 浙江大学学报(英文版)(B辑:生物医学和生物技术)
Journal of Zhejiang University. Science. B
; (12): 105-108, 2019.
Article
em En
| WPRIM
| ID: wpr-1010447
Biblioteca responsável:
WPRO
ABSTRACT
Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lynch et al., 2009), which can trigger a high frequency of replication errors in both microsatellite regions and repetitive sequences in the coding regions of various cancer-related genes. Immunohistochemistry (IHC) tests followed by genetic analysis of these mutations play a significant role in diagnosis, treatment determination, and therapeutic response prediction of LS (Lynch et al., 2009; Alex et al., 2017; Ryan et al., 2017). Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree.
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Base de dados:
WPRIM
Assunto principal:
Linhagem
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Neoplasias Colorretais Hereditárias sem Polipose
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China
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Éxons
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Mutação da Fase de Leitura
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Mutação em Linhagem Germinativa
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Povo Asiático
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Proteínas MutL
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Proteína 1 Homóloga a MutL
Limite:
Adult
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Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Zhejiang University. Science. B
Ano de publicação:
2019
Tipo de documento:
Article