Associated Papers
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.
Pérez-Pérez M et al.
Clinical & Experimental Ophthalmology, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.
Gheybi K et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 2022
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 2020
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A et al.
Human Mutation, 2019
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
Badgujar NV et al.
Plos One, 2019
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Whole-genome landscape of pancreatic neuroendocrine tumours.
Scarpa A et al.
Nature, 2017
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
Roeb W et al.
Human Molecular Genetics, 2012
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
Le Calvez-Kelm F et al.
Breast Cancer Research : Bcr, 2011
Nonsynonymous single nucleotide polymorphisms in DNA damage repair pathways and lung cancer risk.
Tanaka Y et al.
Cancer, 2010
Hereditary breast cancer: from molecular pathology to tailored therapies.
Tan DS et al.
Journal of Clinical Pathology, 2008
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
Bell DW et al.
International Journal of Cancer, 2007
The CHEK2 gene and inherited breast cancer susceptibility.
Nevanlinna H et al.
Oncogene, 2006
Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk.
Einarsdóttir K et al.
Plos Medicine, 2006
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.
Shaag A et al.
Human Molecular Genetics, 2005
Susceptibility to breast cancer: hereditary syndromes and low penetrance genes.
Nusbaum R et al.
Breast Disease, 0