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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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| Hlavní autoři: | , , , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The American Society of Human Genetics
2002
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC379177/ https://ncbi.nlm.nih.gov/pubmed/12094328 |
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