Ask about this productRelated genes to: FLCN antibody
- Gene:
- FLCN NIH gene
- Name:
- folliculin
- Previous symbol:
- -
- Synonyms:
- BHD, MGC17998, MGC23445
- Chromosome:
- 17p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-08-05
- Date modifiied:
- 2019-04-23
Related products to: FLCN antibody
Related articles to: FLCN antibody
- Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by germline pathogenic variations in the FLCN gene. It is characterized by cutaneous fibrofolliculomas, pulmonary cysts with risk of pneumothorax, and an increased risk of renal neoplasms. Salivary gland involvement, particularly parotid oncocytomas, is uncommon and may represent an underrecognized manifestation. This study evaluates the immunohistochemical (IHC) expression of folliculin (FLCN) and glycoprotein non-metastatic melanoma protein B (GPNMB) in parotid oncocytomas to assess their potential utility in identifying BHDS-associated lesions. - Source: PubMed
Publication date: 2026/06/15
Peraza-Labrador AlbertoBishop JustinSchmidt Laura SWright JohnLinehan W MarstonSnipes GeorgeChapman ErinPalsgrove DoreenKesterke MathewKeeney MichaelStevens Todd MShrestha Madhu - Up to 8% of renal tumors have a monogenic cause, yet hereditary renal cell carcinoma (hRCC) syndromes such as von Hippel-Lindau (VHL), Tuberous Sclerosis Complex (TSC), Birt-Hogg-Dubé (BHD), and Hereditary Leiomyomatosis and Renal Cell Cancer remain underdiagnosed. Early diagnosis is critical for patient management, genetic counseling, and family screening. We developed and prospectively validated a structured risk assessment tool (hRCC score) for identifying patients at risk of hereditary renal tumors. - Source: PubMed
Publication date: 2026/05/06
Degenhardt Janvon Zehmen TheresaBeck BodoErger FlorianHeidenreich AxelMüller Roman-UlrichPaffenholz Pia - Birt-Hogg-Dubé syndrome (BHDS) is a hereditary cancer syndrome caused by pathogenic variants in the gene. BHDS is characterized by clinical heterogeneity and similarities with other non-hereditary diseases, which can complicate diagnosis. The aim of our study was to analyze variants in Russian patients and select the optimal diagnostic approach. We studied 121 unrelated patients suspected for BHDS and 29 of their relatives. Germline variants were analyzed using Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). Variant annotation was performed according to the ACMG and AMP recommendations. Pathogenic and likely pathogenic (P/LP) variants were identified in 20.7% of patients, including six new variants. The distribution of variants in our cohort was consistent with data obtained from other authors. The mean age of patients with P/LP variants was higher than of those without: 46.91 versus 33.8 years ( < 0.05), suggesting the necessity to apply diagnostic criteria in young patients more carefully. The most common clinical manifestation of BHDS was pulmonary cysts/pneumothorax, while the most informative were alterations involving at least two of three organ systems, which was present in all patients with the P/LP variants, but only in 54% without them ( = 0.001). BHDS diagnostics involves sequencing exons 4-14 of the gene in patients with proposed clinical criteria. If the result is negative, extensive deletions are excluded using MLPA, and, in the absence of CNV, WGS is performed. - Source: PubMed
Publication date: 2026/05/25
Sermyagina Irina GMikhaylenko Dmitry SKuryakova Natalya BMusatova Viktoria VSolovova Olga AVoskanyan Anait EBessonova Ludmila AMelyanovskaya Yulia LKondratyeva Elena IPolyakov Alexander VShchagina Olga AZaletaev Dmitry VKutsev Sergey IStrelnikov Vladimir V - Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder characterised by pulmonary cysts, recurrent spontaneous pneumothorax, cutaneous lesions and an increased risk of renal tumours. Pulmonary manifestations often precede other features, leading to delayed recognition. We report the case of a non-smoking male in his early 60s who presented with recurrent left-sided spontaneous pneumothorax and exertional dyspnoea. Cutaneous examination revealed multiple acrochordons over the neck. Chest imaging demonstrated pneumothorax, and high-resolution CT of the thorax showed a left upper lobe bulla with multiple bilateral thin-walled pulmonary cysts with basal predominance. The patient underwent bullectomy and surgical pleurodesis. Histopathology revealed thin-walled cysts lined by normal respiratory epithelium without smooth muscle proliferation, and HMB-45 immunostaining was negative, excluding lymphangioleiomyomatosis. Serum alpha-1 antitrypsin levels were normal. Genetic analysis identified a heterozygous pathogenic frameshift variant (c.1285delC) in the FLCN gene, confirming the diagnosis of BHD syndrome. The postoperative course was uneventful, and renal surveillance and family counselling were initiated. This case underscores the importance of considering BHD syndrome in non-smokers presenting with recurrent pneumothorax and cystic lung disease, as early diagnosis facilitates appropriate surveillance and genetic evaluation. - Source: PubMed
Publication date: 2026/06/10
Adiody SupriyaNarayanan S VishnuRaj Austin - Renal cell carcinoma (RCC) is a heterogeneous malignancy with variable outcomes and limited biomarkers for prognosis or immunotherapy response. Although mutations in , , , , , and are frequent, their integrated effects on tumor biology, RNA editing, and non-coding RNA regulation remain unclear. This study aims to integrate genetic, epigenetic, and immune features to provide mechanistic insights into RCC progression and support precision immuno-oncology and vaccine development. - Source: PubMed
Publication date: 2026/05/01
Mehmandoostli ZohrehDehghani Ashkezari MahmoodSeifati Seyed MortezaKardar Gholam Ali