CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families

CONTEXT: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allel...

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Bibliographic Details
Main Authors: Jamile Abud, João Carlos Prolla
Format: Article
Language:English
Published: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE) 2012-12-01
Series:Arquivos de Gastroenterologia
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032012000400008&lng=en&tlng=en