A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer

CHEK2 (previously known as “CHK2”) is a cell-cycle–checkpoint kinase that phosphorylates p53 and BRCA1 in response to DNA damage. A protein-truncating mutation, 1100delC in exon 10, which abolishes the kinase function of CHEK2, has been found in families with Li-Fraumeni syndrome (LFS) and in those...

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Bibliografische gegevens
Hoofdauteurs: Vahteristo, Pia, Bartkova, Jirina, Eerola, Hannaleena, Syrjäkoski, Kirsi, Ojala, Salla, Kilpivaara, Outi, Tamminen, Anitta, Kononen, Juha, Aittomäki, Kristiina, Heikkilä, Päivi, Holli, Kaija, Blomqvist, Carl, Bartek, Jiri, Kallioniemi, Olli-P., Nevanlinna, Heli
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2002
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC379177/
https://ncbi.nlm.nih.gov/pubmed/12094328
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