CDKN2A germline mutations in UK patients with familial melanoma and multiple primary melanomas

被引:72
作者
MacKie, RM
Andrew, N
Lanyon, WG
Connor, JM
机构
[1] Univ Glasgow, Dept Dermatol, Glasgow G12 8QQ, Lanark, Scotland
[2] Univ Glasgow, Dept Med Genet, Glasgow G12 8QQ, Lanark, Scotland
关键词
familial melanoma; growth suppressor; p16; tumor suppressor;
D O I
10.1046/j.1523-1747.1998.00267.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family; a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families. One multiple primary melanoma patient also has the Met 53 ne mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site. Our data together with other recent publications from France and the U.S.A. indicate that screening melanoma kindreds with only two affected family members for CDKN2A mutations is justified.
引用
收藏
页码:269 / 272
页数:4
相关论文
共 22 条
[1]  
Borg A, 1996, CANCER RES, V56, P2497
[2]  
BRILL H, 1997, MELANOMA RES S1, V7, P134
[3]  
BURDEN AD, 1994, BRIT MED J, V309, P375
[4]   FREQUENCY OF HOMOZYGOUS DELETION AT P16/CDKN2 IN PRIMARY HUMAN TUMORS [J].
CAIRNS, P ;
POLASCIK, TJ ;
EBY, Y ;
TOKINO, K ;
CALIFANO, J ;
MERLO, A ;
MAO, L ;
HERATH, J ;
JENKINS, R ;
WESTRA, W ;
RUTTER, JL ;
BUCKLER, A ;
GABRIELSON, E ;
TOCKMAN, M ;
CHO, KR ;
HEDRICK, L ;
BOVA, GS ;
ISAACS, W ;
KOCH, W ;
SCHWAB, D ;
SIDRANSKY, D .
NATURE GENETICS, 1995, 11 (02) :210-212
[5]   LOCALIZATION OF THE 9P MELANOMA SUSCEPTIBILITY LOCUS (MLM) TO A 2-CM REGION BETWEEN D9S736 AND D9S171 [J].
CANNONALBRIGHT, LA ;
GOLDGAR, DE ;
NEUHAUSEN, S ;
GRUIS, NA ;
ANDERSON, DE ;
LEWIS, CM ;
JOST, M ;
TRAN, TD ;
NYGUEN, K ;
KAMB, A ;
WEAVERFELDHAUS, J ;
MEYER, LJ ;
ZONE, JJ ;
SKOLNICK, MH .
GENOMICS, 1994, 23 (01) :265-268
[6]   ASSIGNMENT OF A LOCUS FOR FAMILIAL MELANOMA, MLM, TO CHROMOSOME-9P13-P22 [J].
CANNONALBRIGHT, LA ;
GOLDGAR, DE ;
MEYER, LJ ;
LEWIS, CM ;
ANDERSON, DE ;
FOUNTAIN, JW ;
HEGI, ME ;
WISEMAN, RW ;
PETTY, EM ;
BALE, AE ;
OLOPADE, OI ;
DIAZ, MO ;
KWIATKOWSKI, DJ ;
PIEPKORN, MW ;
ZONE, JJ ;
SKOLNICK, MH .
SCIENCE, 1992, 258 (5085) :1148-1152
[7]   Informative MspI polymorphism adjacent to exon 3 of the p16(INK4) (MTS1) gene [J].
Chaubert, P ;
Shaw, P ;
Pillet, N .
MOLECULAR AND CELLULAR PROBES, 1996, 10 (06) :467-468
[8]   Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: Analysis of a clinic-based population [J].
FitzGerald, MG ;
Harkin, DP ;
SilvaArrieta, S ;
MacDonald, DJ ;
Lucchina, LC ;
Unsal, H ;
ONeill, E ;
Koh, J ;
Finkelstein, DM ;
Isselbacher, KJ ;
Sober, AJ ;
Haber, DA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (16) :8541-8545
[9]   The CDKN2A (p16) gene and human cancer [J].
Foulkes, WD ;
Flanders, TY ;
Pollock, PM ;
Hayward, NK .
MOLECULAR MEDICINE, 1997, 3 (01) :5-20
[10]   HOMOZYGOTES FOR CDKN2 (P16) GERMLINE MUTATION IN DUTCH FAMILIAL MELANOMA KINDREDS [J].
GRUIS, NA ;
VANDERVELDEN, PA ;
SANDKUIJL, LA ;
PRINS, DE ;
WEAVERFELDHAUS, J ;
KAMB, A ;
BERGMAN, W ;
FRANTS, RR .
NATURE GENETICS, 1995, 10 (03) :351-353