A Novel FLCN Variant in a Suspected Birt-Hogg-Dube Syndrome Patient

被引:0
作者
Bandini, Erika [1 ]
Zampiga, Valentina [1 ]
Cangini, Ilaria [1 ]
Ravegnani, Mila [2 ]
Arcangeli, Valentina [2 ]
Rossi, Tania [1 ]
Mammi, Isabella [3 ]
Schiavi, Francesca [3 ]
Zovato, Stefania [3 ]
Falcini, Fabio [2 ]
Calistri, Daniele [1 ]
Danesi, Rita [2 ]
机构
[1] IRCCS Ist Romagnolo Studio Tumori IRST Dino Amador, Biosci Lab, I-47014 Meldola, Italy
[2] IRCCS Ist Romagnolo Studio Tumori IRST Dino Amador, Romagna Canc Registry, I-47014 Meldola, Italy
[3] Veneto Inst Oncol IOV IRCSS, Familial Canc Unit, I-35128 Padua, Italy
关键词
case report; genetic testing; FLCN; NGS; genetic variants; DIAGNOSIS; CANCER;
D O I
10.3390/ijms241512418
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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-Dube syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt-Hogg-Dube) 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.
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