Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals

A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian multiple-case breast cancer families, 95% of which had been found to be negative for mutations in BRCA1 a...

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Detalles Bibliográficos
Autores principales: Jekimovs, C R, Chen, X, Arnold, J, Gatei, M, Richard, D J, Spurdle, A B, Khanna, K K, Chenevix-Trench, G
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2005
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2361879/
https://www.ncbi.nlm.nih.gov/pubmed/15700044
http://dx.doi.org/10.1038/sj.bjc.6602381

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