Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

Wu, Pengjie; Zhang, Ning; Wang, Xi; Ning, Xianghui; Teng, Lisong; Bu, Dingfang; Gong, Kan

doi:10.1038/jhg.2012.10

Cited by 51 publications

(37 citation statements)

References 29 publications

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“…We found that almost 60% of VHL carriers harbored a de novo mutation, in agreement with the 56% reported in Chinese patients (Wu et al 2012). However, as the currently accepted de novo VHL mutation rate is estimated at 20-21% (Evans et al 2010), it is likely that the high rate found in our series is due to sample size.…”

supporting

confidence: 60%

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

Cascón¹,

Inglada-Pérez²,

Comino-Méndez³

et al. 2013

Endocrine-Related Cancer

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supporting

confidence: 60%

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

Cascón¹,

Inglada-Pérez²,

Comino-Méndez³

et al. 2013

Endocrine-Related Cancer

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“…Genomic DNA was extracted from peripheral blood of suspected individuals using QIAamp DNA Blood Mini Kit (QIAGEN, Germany) according to instructions. Three coding exons and flanking intronic regions were amplified by PCR using primers as described before 22. Direct sequencing was performed to detect missense mutations, splicing mutations and small indels.…”

Section: Methodsmentioning

confidence: 99%

Risk factors for survival in patients with von Hippel-Lindau disease

Wang

Peng

et al. 2018

J Med Genet

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“…During the period from 2009 to 2012, 39 families with VHL disease were diagnosed with hereditary VHL disease at the Department of Urology, Peking University First Hospital based on the clinical criteria and mutation detection in VHL as previous described (23). In these families, 19 families had two or more than two patients in two or more than two generations, including one family with obscure onset age.…”

Section: Patients and Samplesmentioning

confidence: 99%

Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families

Ning

Zhang

et al. 2014

Cancer Research

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Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome. A phenomenon known as genetic anticipation has been documented in some hereditary cancer syndromes, where it was proved to relate to telomere shortening. Because studies of this phenomenon in VHL disease have been relatively scarce, we investigated anticipation in 18 Chinese VHL disease families. We recruited 34 parent-child patient pairs (57 patients) from 18 families with VHL disease. Onset age was defined as the age when any symptom or sign of VHL disease first appeared. Anticipation of onset age was analyzed by paired t test and the other two special tests (HV and RY2). Relative telomere length of peripheral leukocytes was measured in 29 patients and 325 healthy controls. Onset age was younger in child than in parent in 31 of the 34 parent-child pairs. Patients in the first generation had older onset age with longer age-adjusted relative telomere length, and those in the next generation had younger onset age with shorter age-adjusted relative telomere length (P < 0.001) in the 10 parent-child pairs from eight families with VHL disease. In addition, relative telomere length was shorter in the 29 patients with VHL disease than in the normal controls (P ¼ 0.003). The anticipation may relate to the shortening of telomere length in patients with VHL in successive generations. These findings indicate that anticipation is present in families with VHL disease and may be helpful for genetic counseling for families with VHL disease families and for further understanding the pathogenesis of VHL disease. Cancer Res; 74(14); 3802-9. Ó2014 AACR.

show abstract

Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

Cited by 51 publications

References 29 publications

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

Risk factors for survival in patients with von Hippel-Lindau disease

Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families

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