Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease

被引：15

作者：

Harada, N ^{[1
]}

Sugimura, T

Yoshimura, R

Motomura, S

Shirahama, S

Naramoto, JI

Chijiiwa, Y

Nakamura, K

Ito, KI

Nawata, H

机构：

[1] Fukuoka Teishin Hosp, Dept Internal Med, Fukuoka, Japan

[2] SRL Inc, Ctr Mol Biol & Cytogenet, Tokyo, Japan

[3] Naramoto Clin, Saga, Japan

[4] Kyushu Univ, Med Inst Bioregulat, Beppu, Oita, Japan

[5] Kyushu Univ, Grad Sch Med Sci, Dept Med & Bioregulatory Sci, Higashi Ku, Fukuoka 8128582, Japan

来源：

JOURNAL OF GASTROENTEROLOGY | 2003年 / 38卷 / 01期

关键词：

Cowden disease; PTEN; multiple hamartoma syndrome;

D O I：

10.1007/s005350300012

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

We report a novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. A 46-yearold Japanese man and his mother were diagnosed as having Cowden disease. Their physical examinations revealed multiple facial trichilemmoma, oral mucosal papillomatosis, palmoplantar keratosis, and gastrointestinal polyposis. The single-strand conformation polymorphism (SSCP) analysis showed an abnormal band on exon 7 of their PTEN gene. Direct sequence analysis of exon 7 detected a TAAA insertion to codon 221, producing a stop codon (c.663ins TAAA).

引用

页码：87 / 91

页数：5

共 19 条

[1]

Bonneau D, 2000, HUM MUTAT, V16, P109, DOI 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO

[2]

2-0

[3]

Eng C, 1998, INT J ONCOL, V12, P701

[4]

Guldberg P, 1997, CANCER RES, V57, P3660

[5] Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease [J].

Kohno, T ;

Takahashi, M ;

Fukutomi, T ;

Ushio, K ;

Yokota, J .

JAPANESE JOURNAL OF CANCER RESEARCH, 1998, 89 (05) :471-474

[6] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer [J].

Li, J ;

Yen, C ;

Liaw, D ;

Podsypanina, K ;

Bose, S ;

Wang, SI ;

Puc, J ;

Miliaresis, C ;

Rodgers, L ;

McCombie, R ;

Bigner, SH ;

Giovanella, BC ;

Ittmann, M ;

Tycko, B ;

Hibshoosh, H ;

Wigler, MH ;

Parsons, R .

SCIENCE, 1997, 275 (5308) :1943-1947

[7] Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome [J].

Liaw, D ;

Marsh, DJ ;

Li, J ;

Dahia, PLM ;

Wang, SI ;

Zheng, ZM ;

Bose, S ;

Call, KM ;

Tsou, HC ;

Peacocke, M ;

Eng, C ;

Parsons, R .

NATURE GENETICS, 1997, 16 (01) :64-67

[8] COWDENS DISEASE - A POSSIBLE NEW SYMPTOM COMPLEX WITH MULTIPLE SYSTEM INVOLVEMENT [J].

LLOYD, KM ;

DENNIS, M .

ANNALS OF INTERNAL MEDICINE, 1963, 58 (01) :136-+

[9] Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis [J].

Lynch, ED ;

Ostermeyer, EA ;

Lee, MK ;

Arena, JF ;

Ji, HL ;

Dann, J ;

Swisshelm, K ;

Suchard, D ;

MacLeod, PM ;

Kvinnsland, S ;

Gjertsen, BT ;

Heimdal, K ;

Lubs, H ;

Moller, P ;

King, MC .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) :1254-1260

[10] Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation [J].

Marsh, DJ ;

Coulon, V ;

Lunetta, KL ;

Rocca-Serra, P ;

Dahia, PLM ;

Zheng, ZM ;

Liaw, D ;

Caron, S ;

Duboué, B ;

Lin, AY ;

Richardson, AL ;

Bonnetblanc, JM ;

Bressieux, JM ;

Cabarrot-Moreau, A ;

Chompret, A ;

Demange, L ;

Eeles, RA ;

Yahanda, AM ;

Fearon, ER ;

Fricker, JP ;

Gorlin, RJ ;

Hodgson, SV ;

Huson, S ;

Lacombe, D ;

LePrat, F ;

Odent, S ;

Toulouse, C ;

Olopade, OI ;

Sobol, H ;

Tishler, S ;

Woods, CG ;

Robinson, BG ;

Weber, HC ;

Parsons, R ;

Peacocke, M ;

Longy, M ;

Eng, C .

HUMAN MOLECULAR GENETICS, 1998, 7 (03) :507-515

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