Genetic disorders and renal cell carcinoma

被引：7

作者：

Maranchie, JK ^{[1
]}

Linehan, WM ^{[1
]}

机构：

[1] NCI, Urol Oncol Branch, Canc Res Ctr, NIH, Bethesda, MD 20892 USA

来源：

UROLOGIC CLINICS OF NORTH AMERICA | 2003年 / 30卷 / 01期

关键词：

D O I：

10.1016/S0094-0143(02)00120-9

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Familial syndromes have been described for each of the common renal cell carcinoma histologies. Analysis of affected families led to the identification of genes that are involved in sporadic renal cell carcinoma, and continues to provide insight into the cellular pathways that are associated with tumorigenesis. Because hereditary renal carcinoma frequently has an early-onset and is multi-focal, patient management involves life-long screening and measures to minimize the frequency of invasive procedures and preserve renal parenchyma. An awareness of the nonrenal manifestations of these genetic disorders may facilitate prompt diagnosis and appropriate intervention.

引用

页码：133 / +

页数：10

共 50 条

[21] Endolymphatic sac tumors - A source of morbid hearing loss in von Hippel-Lindau disease [J].

Manski, TJ ;

Heffner, DK ;

Glenn, GM ;

Patronas, NJ ;

Pikus, AT ;

Katz, D ;

Lebovics, R ;

Sledjeski, K ;

Choyke, PL ;

Zbar, B ;

Linehan, WM ;

Oldfield, EH .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 277 (18) :1461-1466

[22]

Niemelä M, 2000, INVEST OPHTH VIS SCI, V41, P1909

[23] Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel-Lindau protein [J].

Ohh, M ;

Park, CW ;

Ivan, N ;

Hoffman, MA ;

Kim, TY ;

Huang, LE ;

Pavletich, N ;

Chau, V ;

Kaelin, WG .

NATURE CELL BIOLOGY, 2000, 2 (07) :423-427

[24] The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix [J].

Ohh, M ;

Yauch, RL ;

Lonergan, KM ;

Whaley, JM ;

Stemmer-Rachamimov, AO ;

Louis, DN ;

Gavin, BJ ;

Kley, N ;

Kaelin, WG ;

Iliopoulos, O .

MOLECULAR CELL, 1998, 1 (07) :959-968

[25]

Pack SD, 1999, CANCER RES, V59, P5560

[26] The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal [J].

Pause, A ;

Lee, S ;

Lonergan, KM ;

Klausner, RD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (03) :993-998

[27] The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins [J].

Pause, A ;

Lee, S ;

Worrell, RA ;

Chen, DYT ;

Burgess, WH ;

Linehan, WM ;

Klausner, RD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (06) :2156-2161

[28]

Pautler S E, 2001, Can J Urol, V8, P1330

[29]

Phillips J L, 2001, Curr Opin Urol, V11, P463, DOI 10.1097/00042307-200109000-00003

[30] Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation [J].

Podolski, J ;

Byrski, T ;

Zajaczek, S ;

Druck, T ;

Zimonjic, DB ;

Popescu, NC ;

Kata, G ;

Borowka, A ;

Gronwald, J ;

Lubinski, J ;

Huebner, K .

JOURNAL OF HUMAN GENETICS, 2001, 46 (12) :685-693

← 1 2 3 4 5 →