New developments in melanoma genetics.

被引：35

作者：

Hayward N. ^{[1
]}

机构：

[1] Joint Experimental Oncology Programme of the Queensland Institute of Medical Research, University of Queensland and the Queensland Cancer Fund, PO Royal Brisbane Hospital, 4029, QLD

来源：

Current Oncology Reports | 2000年 / 2卷 / 4期

基金：

英国医学研究理事会;

关键词：

Melanoma; Plexiform Neurofibroma; Dysplastic Nevus; CDKN2A Mutation; Familial Melanoma;

D O I：

10.1007/s11912-000-0022-z

中图分类号：

学科分类号：

摘要：

Research over the last decade has unraveled many details of genetic susceptibility to melanoma. The most recent advances include the characterization of variants outside the coding region of the CDKN2A gene associated with melanoma predisposition. A mutation in the 5' untranslated region (UTR) of CDKN2A generates a novel upstream initiation codon that abrogates expression of p16, and a common polymorphism in the 3' UTR is associated with increasing familial risk of melanoma. Other studies have assessed CDKN2A mutation status and non-melanoma cancers, atypical nevi, and the development of multiple primary melanomas, and provided information valuable for screening of individuals who are at risk.

引用

页码：300 / 306

页数：6

共 116 条

[31]

Strigini P(1996)Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population Proc Natl Acad Sci U S A 93 8541-8545

[32]

Bianchi-Scarra G(1998)CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds J Invest Dermatol 111 1202-1206

[33]

Whelan AJ(1997)Affected members of melanoma-prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF Genes Chromosomes Cancer 19 52-54

[34]

Bartsch D(1999)A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families Genome Res 9 575-580

[35]

Goodfellow PJ(1999)Functional evidence of novel tumor suppressor genes for cutaneous malignant melanoma Cancer Res 59 516-520

[36]

Hashemi J(1998)Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors Cancer Res 58 2298-2303

[37]

Linder S(1997)Lack of germ-line mutations of CDK4, p16(INK4A), and p15(INK4B) in families with glioma Clin Cancer Res 3 977-981

[38]

Platz A(1993)Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s) Am J Hum Genet 53 96-104

[39]

Liu L(1999)Tumor spectrum in ARF-deficient mice Cancer Res 59 2217-2222

[40]

Dilworth D(1996)Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma Nat Genet 12 97-99

← 1 2 3 4 5 6 7 8 9 10 →