Publication

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

Authors not recorded

Int J Cancer1998PMID 9663592stubpubmedPublished

Abstract

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Linked entities

Linked entities (4)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 4

cancerAdrenal Gland Pheochromocytomacivic_curation1.00
geneVHLcivic_curation1.00
variantVHL G144E (c.431G>A)civic_curation1.00
variantVHL Splice Region (c.463+8C>T)civic_curation1.00

Curated evidence

Evidence citing this paper (6)

civicCuratedShowing 1–6 of 6 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL G144E (c.431G>A)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	accepted	EID6106 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 51 year-old female with unil… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL I147T (c.440T>C)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6107 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL L63P (c.188T>C)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6126 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL Splice Region (c.463+8C>T)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	accepted	EID6108 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL P25L (c.74C>T)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports N/A	3	submitted	EID4892 Mutation detected in a 45 year old female with benign phaeochromocytoma (other phenotypes not described). Mutation was not present in DNA of 100 normal chromosomes and is located near the N terminus. PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL R64P (c.191G>C)1
(predisposing)	Von Hippel-Lindau DiseaseUNRESOLVED	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5674 Screening of 68 patients, who had been operated on for pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in 2 male family members with bilateral pheochromocyt… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic