Molecular genetics of familial renal cell carcinoma syndromes

被引：35

作者：

Cohen, D ^{[1
]}

Zhou, M ^{[1
]}

机构：

[1] Cleveland Clin Fdn, Cleveland, OH 44195 USA

来源：

CLINICS IN LABORATORY MEDICINE | 2005年 / 25卷 / 02期

关键词：

D O I：

10.1016/j.cll.2005.01.003

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Renal cell carcinoma (RCC) represents a group of clinically and genetically diverse diseases. Familial RCC syndromes, although rare, provide an invaluable model to study the molecular mechanisms of renal carcinogenesis. Many oncogenes, and tumor suppressor genes have been identified as responsible for several forms of familial RCC syndromes. Understanding of the molecular pathways of these genes will have significant impact on the diagnosis and treatment of familial and sporadic RCCs.

引用

页码：259 / +

页数：20

共 102 条

[1] Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency [J].

Alam, NA ;

Rowan, AJ ;

Wortham, NC ;

Pollard, PJ ;

Mitchell, M ;

Tyrer, JP ;

Barclay, E ;

Calonje, E ;

Manek, S ;

Adams, SJ ;

Bowers, PW ;

Burrows, NP ;

Charles-Holmes, R ;

Cook, LJ ;

Daly, BM ;

Ford, GP ;

Fuller, LC ;

Hadfield-Jones, SE ;

Hardwick, N ;

Highet, AS ;

Keefe, M ;

MacDonald-Hull, SP ;

Potts, EDA ;

Crone, M ;

Wilkinson, S ;

Camacho-Martinez, F ;

Jablonska, S ;

Ratnavel, R ;

MacDonald, A ;

Mann, RJ ;

Grice, K ;

Guillet, G ;

Lewis-Jones, MS ;

McGrath, H ;

Seukeran, DC ;

Morrison, PJ ;

Fleming, S ;

Rahman, S ;

Kelsell, D ;

Leigh, I ;

Olpin, S ;

Tomlinson, IPM .

HUMAN MOLECULAR GENETICS, 2003, 12 (11) :1241-1252

[2]

[Anonymous], PATHOLOGY GENETICS T

[3] Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer [J].

Bevan, S ;

Edwards, SM ;

Jones, AA ;

Dowe, A ;

Southgate, C ;

Dearnaley, D ;

Easton, DF ;

Houlston, RS ;

Eeles, RA .

PROSTATE CANCER AND PROSTATIC DISEASES, 2003, 6 (01) :12-14

[4]

Bindra RS, 2002, CANCER RES, V62, P3014

[5]

Bjornsson J, 1996, AM J PATHOL, V149, P1201

[6] Alternate choice of initiation codon produces a biologically active product of the von Hippel Lindau gene with tumor suppressor activity [J].

Blankenship, C ;

Naglich, JG ;

Whaley, JM ;

Seizinger, B ;

Kley, N .

ONCOGENE, 1999, 18 (08) :1529-1535

[7]

Brauch H, 2000, CANCER RES, V60, P1942

[8] TSC2 regulates VEGF through mTOR-dependent and -independent pathways [J].

Brugarolas, JB ;

Vazquez, F ;

Reddy, A ;

Sellers, WR ;

Kaelin, WG .

CANCER CELL, 2003, 4 (02) :147-158

[9] HEREDITARY RENAL-CELL CARCINOMA ASSOCIATED WITH A CHROMOSOMAL TRANSLOCATION [J].

COHEN, AJ ;

LI, FP ;

BERG, S ;

MARCHETTO, DJ ;

TSAI, S ;

JACOBS, SC ;

BROWN, RS .

NEW ENGLAND JOURNAL OF MEDICINE, 1979, 301 (11) :592-595

[10] Immunostaining of the von Hippel-Lindau gene product in normal and neoplastic human tissues [J].

Corless, CL ;

Kibel, AS ;

Iliopoulos, O ;

Kaelin, WG .

HUMAN PATHOLOGY, 1997, 28 (04) :459-464

← 1 2 3 4 5 6 7 8 9 10 →