Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population

Genetics in Medicine - Tập 24 - Trang 1857-1866 - 2022
Juliann M. Savatt1,2, Hermela Shimelis1, Andres Moreno-De-Luca1,2,3, Natasha T. Strande1,2, Matthew T. Oetjens1, David H. Ledbetter1,2, Christa Lese Martin1,2, Scott M. Myers1, Brenda M. Finucane1
1Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA
2Genomic Medicine Institute, Geisinger, Danville, PA
3Department of Radiology, Geisinger, Danville, PA

Tài liệu tham khảo

Birt, 1977, Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons, Arch Dermatol, 113, 1674, 10.1001/archderm.1977.01640120042005 Schmidt, 2015, Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome, Nat Rev Urol, 12, 558, 10.1038/nrurol.2015.206 Hasumi, 2009, Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2, Proc Natl Acad Sci U S A, 106, 18722, 10.1073/pnas.0908853106 Baba, 2006, Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling, Proc Natl Acad Sci U S A, 103, 15552, 10.1073/pnas.0603781103 Nickerson, 2002, Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome, Cancer Cell, 2, 157, 10.1016/S1535-6108(02)00104-6 Schmidt, 2018, FLCN: the causative gene for Birt-Hogg-Dubé syndrome, Gene, 640, 28, 10.1016/j.gene.2017.09.044 Jensen, 2017, Birt-Hogg-Dubé syndrome: a case report and a review of the literature, Eur Clin Respir J, 4, 1292378, 10.1080/20018525.2017.1292378 Lopez-Garcia, 2014, Morphological diversity of trichodiscomas and fibrofolliculomas, Am J Dermatopathol, 36, 734, 10.1097/DAD.0000000000000084 Gupta, 2016, Birt-Hogg-Dubé syndrome, Clin Chest Med, 37, 475, 10.1016/j.ccm.2016.04.010 van Rooij, 2020, Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time, Genet Med, 22, 1812, 10.1038/s41436-020-0900-8 Tuke, 2019, Mosaic Turner syndrome shows reduced penetrance in an adult population study, Genet Med, 21, 877, 10.1038/s41436-018-0271-6 Carey, 2016, The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research, Genet Med, 18, 906, 10.1038/gim.2015.187 Dewey, 2016, Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study, Science, 354, aaf6814, 10.1126/science.aaf6814 Buchanan, 2020, Clinical outcomes of a genomic screening program for actionable genetic conditions, Genet Med, 22, 1874, 10.1038/s41436-020-0876-4 Yun, 2021, Accurate, scalable cohort variant calls using DeepVariant and GLnexus, Bioinformatics, 36, 5582, 10.1093/bioinformatics/btaa1081 Packer, 2016, CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data, Bioinformatics, 32, 133, 10.1093/bioinformatics/btv547 Wang, 2007, PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data, Genome Res, 17, 1665, 10.1101/gr.6861907 Abou Tayoun, 2018, Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion, Hum Mutat, 39, 1517, 10.1002/humu.23626 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Riggs, 2020, Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen), Genet Med, 22, 245, 10.1038/s41436-019-0686-8 Landrum, 2018, ClinVar: improving access to variant interpretations and supporting evidence, Nucleic Acids Res, 46, D1062, 10.1093/nar/gkx1153 Staples, 2014, PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent, Am J Hum Genet, 95, 553, 10.1016/j.ajhg.2014.10.005 Quan, 2008, Assessing validity of ICD-9-CM and ICD-10 administrative data in recording clinical conditions in a unique dually coded database, Health Serv Res, 43, 1424, 10.1111/j.1475-6773.2007.00822.x Bycroft, 2018, The UK biobank resource with deep phenotyping and genomic data, Nature, 562, 203, 10.1038/s41586-018-0579-z Manickam, 2018, Exome sequencing-based screening for BRCA1/2 expected pathogenic variants among adult biobank participants, JAMA Netw Open, 1, 10.1001/jamanetworkopen.2018.2140 Cho, 2021, NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants, J Neurol Neurosurg Psychiatry, 92, 694, 10.1136/jnnp-2020-325838 Dershem, 2020, Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population, Am J Hum Genet, 106, 734, 10.1016/j.ajhg.2020.04.006 Dardour, 2016, Bilateral renal tumors in an adult man with Smith-Magenis syndrome: the role of the FLCN gene, Eur J Med Genet, 59, 499, 10.1016/j.ejmg.2016.09.005 Truong, 2010, Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature, BMC Med Genet, 11, 142, 10.1186/1471-2350-11-142 Finucane, 2021, Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax, Am J Med Genet A, 185, 1922, 10.1002/ajmg.a.62159 Smith ACM, Fleming LR, Piskorski AM et al. Deletion of 17p11.2 FLCN with increased risk of Birt-Hogg-Dubé in Smith Magenis Syndrome: Recommendation for Cancer Screening. Paper presented at: Annual conference of the American Society of Human Genetics; October 18-22, 2014; San Diego, CA. Menko, 2009, Birt-Hogg-Dubé syndrome: diagnosis and management, Lancet Oncol, 10, 1199, 10.1016/S1470-2045(09)70188-3 Sattler, 2020, Genetic risk factors for spontaneous pneumothorax in Birt-Hogg-Dubé syndrome, Chest, 157, 1199, 10.1016/j.chest.2019.12.019 Gupta, 2017, Spontaneous pneumothoraces in patients with Birt-Hogg-Dubé syndrome, Ann Am Thorac Soc, 14, 706, 10.1513/AnnalsATS.201611-886OC Johannesma, 2015, Prevalence of Birt-Hogg-Dubé syndrome in patients with apparently primary spontaneous pneumothorax, Eur Respir J, 45, 1191, 10.1183/09031936.00196914