Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study
作者： Florence Le Calvez-Kelm , , Fabienne Lesueur , Francesca Damiola , Maxime Vallée
DOI: 10.1186/BCR2810
关键词:
摘要: Introduction Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution rare cancer risk. This absence been due part a lack validated statistical methods for summarizing attributable large numbers individually substitutions.
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