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• W4385577948 abstract "Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt–Hogg–Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers." @default.
• W4385577948 created "2023-08-05" @default.
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• W4385577948 date "2023-08-04" @default.
• W4385577948 modified "2023-10-04" @default.
• W4385577948 title "A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient" @default.
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• W4385577948 doi "https://doi.org/10.3390/ijms241512418" @default.
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