相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk
Rick A. C. M. Boonen et al.
CANCER RESEARCH (2022)
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Leila Dorling et al.
GENOME MEDICINE (2022)
Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer
Susanna Koivuluoma et al.
EUROPEAN JOURNAL OF CANCER (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
Angeliki Delimitsou et al.
HUMAN MUTATION (2019)
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
Petra Kleiblova et al.
INTERNATIONAL JOURNAL OF CANCER (2019)
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
Tuomo Mantere et al.
PLOS GENETICS (2016)
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study
Florence Le Calvez-Kelm et al.
BREAST CANCER RESEARCH (2011)
Hereditary breast cancer and genetic counseling in young women
Joan Brunet
BREAST CANCER RESEARCH AND TREATMENT (2010)
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts
Daphne W. Bell et al.
INTERNATIONAL JOURNAL OF CANCER (2007)
A recurrent mutation in PALB2 in Finnish cancer families
Hannele Erkko et al.
NATURE (2007)
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer
P Vahteristo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
H Meijers-Heijboer et al.
NATURE GENETICS (2002)
Chk2 kinase - A busy messenger
J Bartek et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)