DIAGNOSTIC USE OF MICROSATELLITE INSTABILITY IN HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER

被引:84
作者
JASS, JR [1 ]
COTTIER, DS [1 ]
JEEVARATNAM, P [1 ]
POKOS, V [1 ]
HOLDAWAY, KM [1 ]
BOWDEN, ML [1 ]
VANDEWATER, NS [1 ]
BROWETT, PJ [1 ]
机构
[1] UNIV AUCKLAND,SCH MED,DEPT MOLEC MED,AUCKLAND,NEW ZEALAND
来源
LANCET | 1995年 / 346卷 / 8984期
关键词
D O I
10.1016/S0140-6736(95)92902-9
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
50 families with a history of colorectal cancer were divided according to whether criteria for hereditary non-polyposis colorectal cancer (HNPCC) were fulfilled totally (A, n=19) or partly (B, n=31) and stratified by the demonstration that at least half the cancers tested per family were positive for DNA replication errors (RER+). Accepted clinical and pathological characteristics of HNPCC were found to cluster within 12 A/RER+ families in which the mean number of affected individuals per family was 10 . 1. Reliance upon clinical data alone may result in over-diagnosis of HNPCC, in small families who just meet the minimum criteria, whereas underdiagnosis is rare. The criteria could be refined by inclusion of RER status.
引用
收藏
页码:1200 / 1201
页数:2
相关论文
共 11 条
  • [1] AALTONEN LA, 1994, CANCER RES, V54, P1645
  • [2] EASTON DF, 1993, AM J HUM GENET, V52, P678
  • [3] Jones Michael H., 1992, Human Molecular Genetics, V1, P131, DOI 10.1093/hmg/1.2.131
  • [4] KIM HG, 1994, AM J PATHOL, V145, P148
  • [5] GENETIC INSTABILITY OCCURS IN THE MAJORITY OF YOUNG-PATIENTS WITH COLORECTAL-CANCER
    LIU, B
    FARRINGTON, SM
    PETERSEN, GM
    HAMILTON, SR
    PARSONS, R
    PAPADOPOULOS, N
    FUJIWARA, T
    JEN, J
    KINZLER, KW
    WYLLIE, AH
    VOGELSTEN, B
    DUNLOP, MG
    [J]. NATURE MEDICINE, 1995, 1 (04) : 348 - 352
  • [6] AN ALU VARIABLE POLYA REPEAT POLYMORPHISM UPSTREAM OF L-MYC AT 1P32
    MAKELA, TP
    HELLSTEN, E
    VESA, J
    ALITALO, K
    PELTONEN, L
    [J]. HUMAN MOLECULAR GENETICS, 1992, 1 (03) : 217 - 217
  • [7] CLOSE LINKAGE TO CHROMOSOME 3P AND CONSERVATION OF ANCESTRAL FOUNDING HAPLOTYPE IN HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER FAMILIES
    NYSTROMLAHTI, M
    SISTONEN, P
    MECKLIN, JP
    PYLKKANEN, L
    AALTONEN, LA
    JARVINEN, H
    WEISSENBACH, J
    DELACHAPELLE, A
    PELTOMAKI, P
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (13) : 6054 - 6058
  • [8] RISINGER JI, 1991, HUM MOL GENET, V1, P657
  • [9] THE INTERNATIONAL-COLLABORATIVE-GROUP-ON-HEREDITARY-NON-POLYPOSIS-COLORECTAL-CANCER (ICG-HNPCC)
    VASEN, HFA
    MECKLIN, JP
    KHAN, PM
    LYNCH, HT
    [J]. DISEASES OF THE COLON & RECTUM, 1991, 34 (05) : 424 - 425
  • [10] WEBER JL, 1990, NUCLEIC ACIDS RES, V18, P4640, DOI 10.1093/nar/18.15.4640