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The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
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ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk