Mutation screening of the BARD1 gene:: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer -: art. no. e114

被引：66

作者：

Karppinen, SM ^{[1
]}

Heikkinen, K ^{[1
]}

Rapakko, K ^{[1
]}

Winqvist, R ^{[1
]}

机构：

[1] Univ Oulu, Oulu Univ Hosp, Dept Clin Genet, FIN-90029 Oys, Finland

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 09期

关键词：

D O I：

10.1136/jmg.2004.020669

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：5

共 40 条

[11] Germline mutations of the BRICA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations [J].

Ghimenti, C ;

Sensi, E ;

Presciuttini, S ;

Brunetti, IM ;

Conte, P ;

Bevilacqua, G ;

Caligo, MA .

GENES CHROMOSOMES & CANCER, 2002, 33 (03) :235-242

[12] The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation [J].

Hashizume, R ;

Fukuda, M ;

Maeda, I ;

Nishikawa, H ;

Oyake, D ;

Yabuki, Y ;

Ogata, F ;

Ohta, T .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (18) :14537-14540

[13] Evidence of founder mutations in Finnish BRCA1 and BRCA2 families [J].

Huusko, P ;

Pääkkönen, K ;

Launonen, V ;

Pöyhönen, M ;

Blanco, G ;

Kauppila, A ;

Puistola, U ;

Kiviniemi, H ;

Kujala, M ;

Leisti, J ;

Winqvist, R .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1544-1548

[14] Genome-wide scanning for linkage in Finnish breast cancer families [J].

Huusko, P ;

Juo, SHH ;

Gillanders, E ;

Sarantaus, L ;

Kainu, T ;

Vahteristo, P ;

Allinen, M ;

Jones, M ;

Rapakko, K ;

Eerola, H ;

Markey, C ;

Vehmanen, P ;

Gildea, D ;

Freas-Lutz, D ;

Blomqvist, C ;

Leisti, J ;

Blanco, G ;

Puistola, U ;

Trent, J ;

Bailey-Wilson, J ;

Winqvist, R ;

Nevanlinna, H ;

Kallioniemi, OP .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (02) :98-104

[15] Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis [J].

Irminger-Finger, I ;

Leung, WC ;

Li, J ;

Dubois-Dauphin, M ;

Harb, J ;

Feki, A ;

Jefford, CE ;

Soriano, JV ;

Jaconi, M ;

Montesano, R ;

Krause, KH .

MOLECULAR CELL, 2001, 8 (06) :1255-1266

[16] In vitro repression of Brca1-associated RING domain gene, Bard1, induces phenotypic changes in mammary epithelial cells [J].

Irminger-Finger, I ;

Soriano, JV ;

Vaudan, G ;

Montesano, R ;

Sappino, AP .

JOURNAL OF CELL BIOLOGY, 1998, 143 (05) :1329-1339

[17] Mutational analysis of BARD1 in familial breast cancer patients in Japan [J].

Ishitobi, M ;

Miyoshi, Y ;

Hasegawa, S ;

Egawa, C ;

Tamaki, Y ;

Monden, M ;

Noguchi, S .

CANCER LETTERS, 2003, 200 (01) :1-7

[18] Nuclear-cytoplasmic translocation of BARD1 is linked to its apoptotic activity [J].

Jefford, CE ;

Feki, A ;

Harb, J ;

Krause, KH ;

Irminger-Finger, I .

ONCOGENE, 2004, 23 (20) :3509-3520

[19] Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains [J].

Jin, Y ;

Xu, XL ;

Yang, MCW ;

Wei, FL ;

Ayi, TC ;

Bowcock, AM ;

Baer, R .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (22) :12075-12080

[20] Functional interaction of BRCA1-associated BARD1 with polyadenylation factor CstF-50 [J].

Kleiman, FE ;

Manley, JL .

SCIENCE, 1999, 285 (5433) :1576-1579

← 1 2 3 4 →