Associated Papers
Germline genomic profiling of patients with early-onset colorectal cancer.
Mauri G et al.
Esmo Gastrointestinal Oncology, 2025
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A et al.
Human Mutation, 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_5__Variants_with_persistent_interpretation_differences_after_reassessment_.xlsx › Supplemental_Table_5
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
Frey MK et al.
Gynecologic Oncology, 2017
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
Stafford JL et al.
Plos One, 2017
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
Roeb W et al.
Human Molecular Genetics, 2012
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