Somatic mutation of the PTEN/MMAC1 gene in breast cancers with microsatellite instability

被引：9

作者：

Minobea, K

Bando, K

Fukino, K

Soma, S

Kasumi, F

Sakamoto, G

Furukawa, K

Higuchi, K

Onda, M

Nakamura, Y

Emi, M

机构：

[1] Nippon Med Sch, Inst Gerontol, Dept Mol Biol, Nakahara Ku, Kawasaki, Kanagawa 2118533, Japan

[2] Nippon Med Coll Hosp, Dept Surg 1, Tokyo 1138602, Japan

[3] Canc Inst Hosp, Dept Surg & Pathol, Tokyo 1408455, Japan

[4] Univ Tokyo, Inst Med Sci, Mol Med Lab, Tokyo 1088639, Japan

来源：

CANCER LETTERS | 1999年 / 144卷 / 01期

关键词：

PTEN/MMAC1; gene; microsatellite instability; breast cancer; replication-error phenotype;

D O I：

10.1016/S0304-3835(99)00181-0

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The extent to which microsatellite instability (MI) contributes to the etiology of breast cancer has not been established in any large-scale studies. We examined 528 samples of tumor DNA from patients with primary breast cancer for MI, using 14 polymorphic CA-repeat markers. The frequency of MI in these tumors was unexpectedly low (10/528, 1.9%), The ten MI+ tumors were analyzed for mutations in five potential target genes that contain simple repeat sequences (TGFBIIR, IGF2R, hMSH6, BAX and PTEN/MMAC1), A somatic insertion of an extra adenine in the (A)(6) region at codon 321-323 (exon 8) of the PTEN/MMAC1 gene, leading to a frame-shift, was identified in one tumor. This observation represented the first documented instance of PTEN/MMAC1 alteration in a MI+ primary breast cancer. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：9 / 16

页数：8

共 36 条

[1] CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER [J].

AALTONEN, LA ;

PELTOMAKI, P ;

LEACH, FS ;

SISTONEN, P ;

PYLKKANEN, L ;

MECKLIN, JP ;

JARVINEN, H ;

POWELL, SM ;

JEN, J ;

HAMILTON, SR ;

PETERSEN, GM ;

KINZLER, KW ;

VOGELSTEIN, B ;

DELACHAPELLE, A .

SCIENCE, 1993, 260 (5109) :812-816

[2]

Akiyama Y, 1997, CANCER RES, V57, P3920

[3] MUTATIONS IN HUMAN-BREAST CANCER - AN OVERVIEW [J].

CALLAHAN, R ;

CAMPBELL, G .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1989, 81 (23) :1780-1786

[4] MICROSATELLITE INSTABILITY AND PATHOLOGICAL ASPECTS OF BREAST-CANCER [J].

CONTEGIACOMO, A ;

PALMIROTTA, R ;

DEMARCHIS, L ;

PIZZI, C ;

MASTRANZO, P ;

DELRIO, P ;

PETRELLA, G ;

FIGLIOLINI, M ;

BIANCO, AR ;

FRATI, L ;

CAMA, A ;

MARIANICOSTANTINI, R .

INTERNATIONAL JOURNAL OF CANCER, 1995, 64 (04) :264-268

[5] THE HUMAN MUTATOR GENE HOMOLOG MSH2 AND ITS ASSOCIATION WITH HEREDITARY NONPOLYPOSIS COLON-CANCER [J].

FISHEL, R ;

LESCOE, MK ;

RAO, MRS ;

COPELAND, NG ;

JENKINS, NA ;

GARBER, J ;

KANE, M ;

KOLODNER, R .

CELL, 1993, 75 (05) :1027-1038

[6] THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].

GYAPAY, G ;

MORISSETTE, J ;

VIGNAL, A ;

DIB, C ;

FIZAMES, C ;

MILLASSEAU, P ;

MARC, S ;

BERNARDI, G ;

LATHROP, M ;

WEISSENBACH, J .

NATURE GENETICS, 1994, 7 (02) :246-339

[7] Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene [J].

Hirayama, T ;

Yamaki, E ;

Hata, A ;

Tsuji, M ;

Hashimoto, K ;

Yamamoto, M ;

Emi, M .

JOURNAL OF HUMAN GENETICS, 1998, 43 (04) :250-254

[8]

Jiricny J, 1996, CANCER SURV, V28, P47

[9] ANTIONCOGENES AND HUMAN CANCER [J].

KNUDSON, AG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (23) :10914-10921

[10] Somatic mutations of the PTEN/MMAC1 gene in fifteen Japanese endometrial cancers:: Evidence for inactivation of both alleles [J].

Kurose, K ;

Bando, K ;

Fukino, K ;

Sugisaki, Y ;

Araki, T ;

Emi, M .

JAPANESE JOURNAL OF CANCER RESEARCH, 1998, 89 (08) :842-848

← 1 2 3 4 →