Gene: [03p2/VHL] von Hippel-Lindau gene; von Hippel-Lindau syndrome; renal cell carcinoma (adenocarcinoma of kidney); [RCC RCC1 ]

COM

[1] An independent marker RCC (renal cell carcinoma) was previously mapped to chromosome 3p (p13-11.2). HGM10 excluded this marker from the catalogue, basing on the report of Tory-1989, whose results suggested that the genetic background for both von Hippel-Lindau neurohemangioblastoma and adenocarcinoma of kidney is 'loss of heterozygosity' of the same oncosupressor gene. The MIM catalogue describes adenocarcinoma of kidney under MIM:144700, with gene localization in 3p14.2.
[2] According to Pericak-Vance-1993, regional localization of VHL gene may be restricted to 3p25."

LIN

Loci: GEM:03p25/RAF1.
[1] VHL is linked with RAF1 (Wells-1987; Seizinger-1988; Tory-1989; Vance-1989). Com. According to Seizinger-1988, Hippel-Lindau syndrome is not related to the mutation of RAF1 gene."

PAT

The main manifestations of the syndrome are retinal angiomatosis, cerebellar hemangioblastomas, and hypernephroma, which are complicated with detached retina, glaucoma, blindness, ataxia, spastic parapareses, hydrocephaly, and pheochromocytoma as the disease progresses."

HET

According to Kovacs-1989, 95% patients with the sporadic nonpapilliferous carcinoma (nonpapillary adenocarcinoma) of kidney cells exhibit aberrations in chromosome 3, 48% exhibit the chromosome 5 trisomy (5q22-t), and 45% exhibit the deletion in chromosome 14
(14q22-t). Therefore, the MIM catalogue included two other markers: RSS2, with a presumed localization in chr 14q (MIM:179760), and RCC3, with a presumed localization in chr 5q (MIM:179770)."

REL

GEM:00.0/VHLBP1.

REF

COM,LOC "Carroll PR &: Cancer Genet Cytogenet, 26, 253-259, 1987
MUT "Chen F &: Hum Mut, 5, 66-75, 1995
MUT "Crossey PA &: Hum Mol Genet, 3, 1303-1308, 1994
COD,SEQ,EXP "Duan DR &: PNAS, 92, 6459-6463, 1995a
FUN "Duan DR &: Science, 269, 1402-1406, 1995b
REV,PAT,MUT,HET "Eng C &: J Med Genet, 32, 934-937, 1995
LIN,EAG,HUM,RAT "Erlandsson &: CCG, 57, N2-3, 149-150, 1991
MUT "Gilcrease MZ &: Hum Pathol, 26, 1341-1346, 1995
MUT "Gross DJ &: J Clin Endocrinol Metab, 81, 147-149, 1996
FUN "Iliopoulos O &: PNAS, 93, 10595-10599, 1996
FUN "Iliopoulos O &: Nature Med, 1, 822-826, 1995
MUT "Kanno H &: Cancer Res, 54, 4845-4847, 1994
FUN "Kibel A &: Science, 269, 1444-1446, 1995
COM,LOC "King CR &: Cancer Genet Cytogenet, 27, 345-348, 1987
LIN,CYG,HET "Kovacs G, Frisch: Cancer Res, 49, 651-659, 1989
COM,LOC "Kovacs G &: PNAS, 85, N5, 1571-1575, 1988
CLO,SEQ,GEN "Latif F &: Science, 260, 1317-1320, 1993
FUN "Lee S &: PNAS, 93, 1770-1775, 1996
REV,PAT "Maddock IR &: J Med Genet, 33, 120-127, 1996
LIN,MAP "Pericak-Vance &: J Med Genet, 30, 487-491, 1993
FUN "Prowse AH &: AJHG, 60, N4, 765-771, 1997
MAP "Richards FM &: Hum Mol Genet, 3, 595-598, 1994
MAP "Richards FM &: J Med Genet, 30, 104-107, 1993
LOC,LIN "Seizinger BR &: Nature, 332, 268-269, 1988
COM,LOC "Szucs S &: Cancer Genet Cytogenet, 26, 369-373, 1987
LOC,LIN "Tory &: CCG, 51, (HGM10), 1092, 1989
LOC,LIN "Vance &: CCG, 51, (HGM10), 1097, 1989
COM,LOC "Wang, Perkins: Cancer Genet Cytogenet, 11, 479-481, 1984
LOC,LIN "Wells &: CCG, 46, (HGM9), 714, 1987
MUT "Zbar B &: Hum Mut, 8, 348-357, 1996
COM,LOC "Zbar B &: Nature, 327, 721-724, 1987

SWI

 SWISSPROT: P40337

KEY

onc, neu, eye, ren

CLA

coding, basic

LOC

03 p26-25

MIM

 MIM: 193300

SYN

RCC RCC1

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