Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

被引：30
|
作者：
Chadwick, RB
Pyatt, RE
Niemann, TH
Richards, SK
Johnson, CK
Stevens, MW
Meek, JE
Hampel, H
Prior, TW
de la Chapelle, A
机构：
[1] Ohio State Univ, Div Human Canc Genet, Columbus, OH 43210 USA
[2] Ohio State Univ, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA
[3] Ohio State Univ, Ctr Comprehens Canc, Columbus, OH 43210 USA
[4] Ohio State Univ, Med Ctr, Dept Pathol, Columbus, OH 43210 USA
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 07期
关键词：
D O I：
10.1136/jmg.38.7.461
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：461 / 466
页数：6
相关论文
共 50 条
  • [1] DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
    Walker, Romy
    Mahmood, Khalid
    Como, Julia
    Clendenning, Mark
    Joo, Jihoon E.
    Georgeson, Peter
    Joseland, Sharelle
    Preston, Susan G.
    Pope, Bernard J.
    Chan, James M.
    Austin, Rachel
    Bojadzieva, Jasmina
    Campbell, Ainsley
    Edwards, Emma
    Gleeson, Margaret
    Goodwin, Annabel
    Harris, Marion T.
    Ip, Emilia
    Kirk, Judy
    Mansour, Julia
    Fan, Helen Mar
    Nichols, Cassandra
    Pachter, Nicholas
    Ragunathan, Abiramy
    Spigelman, Allan
    Susman, Rachel
    Christie, Michael
    Jenkins, Mark A.
    Pai, Rish K.
    Rosty, Christophe
    Macrae, Finlay A.
    Winship, Ingrid M.
    Buchanan, Daniel D.
    CANCERS, 2023, 15 (20)
  • [2] Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability
    Lim, PC
    Tester, D
    Cliby, W
    Ziesmer, SC
    Roche, PC
    Hartmann, L
    Thibodeau, SN
    Podratz, KC
    Jenkins, RB
    CLINICAL CANCER RESEARCH, 1996, 2 (11) : 1907 - 1911
  • [3] DNA mismatch repair gene variant classification: Evaluating detection of somatic mutations and mismatch repair deficient crypts/glands in colonic and endometrial tissue
    Walker, R.
    Mahmood, K.
    Como, J.
    Clendenning, M.
    Joo, J. E.
    Georgeson, P.
    Joseland, S.
    Preston, S. G.
    Austin, R.
    Bojadzieva, J.
    Campbell, A.
    Chan, J. M.
    Edwards, E.
    Gleeson, M.
    Goodwin, A.
    Harris, M. T.
    Ip, E.
    Kirk, J.
    Mansour, J.
    Marfan, H.
    Nichols, C.
    Pachter, N.
    Ragunathan, A.
    Spigelman, A.
    Susman, R.
    Christie, M.
    Jenkins, M. A.
    Pai, R. K.
    Rosty, C.
    Macrae, F. A.
    Buchanan, D. D.
    Winship, I. M.
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2023, 38 : 27 - 28
  • [4] Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations
    Sijmons, Rolf H.
    Hofstra, Robert M. W.
    DNA REPAIR, 2016, 38 : 155 - 162
  • [5] MUTATIONS IN DNA MISMATCH REPAIR GENES ARE NOT RESPONSIBLE FOR MICROSATELLITE INSTABILITY IN MOST SPORADIC ENDOMETRIAL CARCINOMAS
    KATABUCHI, H
    VANREES, B
    LAMBERS, AR
    RONNETT, BM
    BLAZES, MS
    LEACH, FS
    CHO, KR
    HEDRICK, L
    CANCER RESEARCH, 1995, 55 (23) : 5556 - 5560
  • [6] DNA Mismatch Repair Deficiency in Endometrial Carcinoma
    Karamurzin, Yevgeniy
    Rutgers, Joanne K. L.
    INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 2009, 28 (03) : 239 - 255
  • [7] Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer
    Yamamoto, H
    Sawai, H
    Weber, TK
    Rodriguez-Bigas, MA
    Perucho, M
    CANCER RESEARCH, 1998, 58 (05) : 997 - 1003
  • [8] Mutations in DNA mismatch repair genes in sporadic colorectal cancers
    Herfarth, KKF
    Kodner, IJ
    Wells, SA
    Goodfellow, PJ
    LANGENBECKS ARCHIV FUR CHIRURGIE, 1996, : 425 - 427
  • [9] Somatic frameshift mutations in the MBD4 gene of sporadic colon cancers with mismatch repair deficiency
    Bader, S
    Walker, M
    Heindrich, B
    Bird, A
    Bird, C
    Hooper, M
    Wyllie, A
    ONCOGENE, 1999, 18 (56) : 8044 - 8047
  • [10] Somatic frameshift mutations in the MBD4 gene of sporadic colon cancers with mismatch repair deficiency
    Bader, S
    Walker, M
    Hendrich, B
    Bird, A
    Bird, C
    Hooper, M
    Harrison, D
    Wyllie, A
    JOURNAL OF PATHOLOGY, 2000, 190 : 46A - 46A
12345