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Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

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From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

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Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

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Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

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Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

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Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

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Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain

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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

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