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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
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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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- Journal Article
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
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- Journal Article
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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- Journal Article
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Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores
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- Journal Article
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
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The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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- Journal Article
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
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Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants : results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
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- Journal Article
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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- Journal Article
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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
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Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
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Height and body mass index as modifiers of breast cancer risk in BRCA1/2 mutation carriers : a Mendelian randomization study
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- Journal Article
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer