دورية أكاديمية
أعرض في EDS

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

التفاصيل البيبلوغرافية
العنوان: Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
المؤلفون: Bennedbæk M; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark., Rasmussen ÅK; Department of Medical Endocrinology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark., Skytte AB; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21 C, Aarhus N, 8200 Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21 C, Aarhus N, 8200 Denmark., Nielsen FC; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark., Hansen TVO; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
المصدر: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2016 Jun 08; Vol. 14, pp. 13. Date of Electronic Publication: 2016 Jun 08 (Print Publication: 2016).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: Poland NLM ID: 101231179 Publication Model: eCollection Cited Medium: Print ISSN: 1731-2302 (Print) Linking ISSN: 17312302 NLM ISO Abbreviation: Hered Cancer Clin Pract Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2008- : London : BioMed Central
Original Publication: Poznań, Poland : Termedia Pub. House, 2003-
مستخلص: Background: Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma patients.
Methods: Mutational screening was performed by Sanger sequencing or next-generation sequencing. The frequencies of variants of unknown clinical significance, e.g. intronic, missense, and synonymous variants, were determined using the Exome Aggregation Consortium database, while the significance of missense mutations was predicted by in silico and loss of heterozygosity analysis when possible.
Results: We report 18 germline variants; nine in SDHB, six in SDHC, and three in SDHD. Of these 18 variants, eight are novel. We classify 12 variants as likely pathogenic/pathogenic, one as likely benign, and five as variants of unknown clinical significance.
Conclusions: Identifying and classifying SDHB, SDHC, and SDHD variants present in the Danish population will augment the growing knowledge on variants in these genes and may support future clinical risk assessments.
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فهرسة مساهمة: Keywords: Classification; Germline; Mutation; Paraganglioma; Pheochromocytoma; SDHB; SDHC; SDHD
تواريخ الأحداث: Date Created: 20160610 Date Completed: 20160609 Latest Revision: 20201001
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC4898401
DOI: 10.1186/s13053-016-0053-6
PMID: 27279923
قاعدة البيانات: MEDLINE
الوصف
تدمد:1731-2302
DOI:10.1186/s13053-016-0053-6