Associated Papers
Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.
Rawashdeh RR et al.
Jco Global Oncology, 2024
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data
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
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
A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events.
Brooks AN et al.
Plos One, 2014
24498085 (PubMed )
Supplement: pone.0087361.s001.pdf
Two new CHEK2 germ-line variants detected in breast cancer/sarcoma families negative for BRCA1, BRCA2, and TP53 gene mutations.
Manoukian S et al.
Breast Cancer Research and Treatment, 2011
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