A FAMILIAL SYNDROME OF PANCREATIC-CANCER AND MELANOMA WITH A MUTATION IN THE CDKN2 TUMOR-SUPPRESSOR GENE

被引：225

作者：

WHELAN, AJ

BARTSCH, D

GOODFELLOW, PJ

机构：

[1] WASHINGTON UNIV,SCH MED,DEPT MED,ST LOUIS,MO 63110

[2] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,ST LOUIS,MO 63110

[3] WASHINGTON UNIV,SCH MED,DEPT SURG,ST LOUIS,MO 63110

[4] UNIV MARBURG,DEPT SURG,W-3550 MARBURG,GERMANY

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1995年 / 333卷 / 15期

关键词：

D O I：

10.1056/NEJM199510123331505

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The distinguishing characteristics of familial cancer syndromes are an inherited predisposition to one or more characteristic types of tumors, early age at onset, and multiple synchronous or asynchronous tumors. Recently, the genes responsible for a number of inherited cancers have been identified.1–5 We describe a kindred with an increased risk of pancreatic cancers, melanomas, and possibly additional types of tumors. We provide strong evidence linking the predisposition to cancer in this kindred to an inherited mutation in the cyclin-dependent–kinase inhibitor 2 (CDKN2) tumor-suppressor gene. The results of our study of this family suggest that disruption of the. © 1995, Massachusetts Medical Society. All rights reserved.

引用

页码：975 / 977

页数：3

共 24 条

[1]

BARTSCH D, IN PRESS GENES CHROM

[2] FREQUENT SOMATIC MUTATIONS AND HOMOZYGOUS DELETIONS OF THE P16 (MTS1) GENE IN PANCREATIC ADENOCARCINOMA (VOL 8, PG 27, 1994) [J].

CALDAS, C ;

HAHN, SA ;

DACOSTA, LT ;

REDSTON, MS ;

SCHUTTE, M ;

SEYMOUR, AB ;

WEINSTEIN, CL ;

HRUBAN, RH ;

YEO, CJ ;

KERN, SE .

NATURE GENETICS, 1994, 8 (04) :410-410

[3] FREQUENT SOMATIC MUTATIONS AND HOMOZYGOUS DELETIONS OF THE P16 (MTS1) GENE IN PANCREATIC ADENOCARCINOMA [J].

CALDAS, C ;

HAHN, SA ;

DACOSTA, LT ;

REDSTON, MS ;

SCHUTTE, M ;

SEYMOUR, AB ;

WEINSTEIN, CL ;

HRUBAN, RH ;

YEO, CJ ;

KERN, SE .

NATURE GENETICS, 1994, 8 (01) :27-32

[4]

CUBILLA AL, 1979, MAYO CLIN PROC, V54, P449

[5]

EHRENTHAL D, 1987, CANCER, V59, P1661, DOI 10.1002/1097-0142(19870501)59:9<1661::AID-CNCR2820590923>3.0.CO

[6]

2-H

[7]

FRIEDMAN JM, 1976, CLIN GENET, V9, P463

[8] GERMLINE P16 MUTATIONS IN FAMILIAL MELANOMA [J].

HUSSUSSIAN, CJ ;

STRUEWING, JP ;

GOLDSTEIN, AM ;

HIGGINS, PAT ;

ALLY, DS ;

SHEAHAN, MD ;

CLARK, WH ;

TUCKER, MA ;

DRACOPOLI, NC .

NATURE GENETICS, 1994, 8 (01) :15-21

[9]

Kamb A, 1994, Nat Genet, V8, P23

[10] A CELL-CYCLE REGULATOR POTENTIALLY INVOLVED IN GENESIS OF MANY TUMOR TYPES [J].

KAMB, A ;

GRUIS, NA ;

WEAVERFELDHAUS, J ;

LIU, QY ;

HARSHMAN, K ;

TAVTIGIAN, SV ;

STOCKERT, E ;

DAY, RS ;

JOHNSON, BE ;

SKOLNICK, MH .

SCIENCE, 1994, 264 (5157) :436-440

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